Eular On-line Course on Rheumatic Diseases module n1 Jos A.P.

da Silva, Karen Lisbeth Faarvang, Catia Duarte

DIAGNOSTIC STRATEGY IN RHEUMATOLOGY

Jos da Silva - Karen Lisbeth Faarvang - Catia Duarte

LEARNING OUTCOMES
Global objectives At the end of this chapter the student will be able to differentiate the main rheumatological syndromes, generate short representations of clinical cases and use them as guides for a structured approach to questioning and physical examination of the patient and as a framework for final diagnosis.

Specific objectives Recognize the importance of case representation, summaries and illness strings Differentiate the main syndromes in rheumatology based on appropriate questioning and physical examination Generate short summary descriptions (representations) of clinical cases Use the syndromes to guide questioning and clinical reasoning (Two-step diagnosis) Differentiate inflammatory arthritis from osteoarthritis Recognize atypical osteoarthritis Differentiate the different causes of regional syndrome Characterize the most commons patterns of arthritis and their differential diagnosis Recognize fibromyalgia Differentiate the most common connective tissue diseases

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Eular On-line Course on Rheumatic Diseases module n1 Jos A.P. da Silva, Karen Lisbeth Faarvang, Catia Duarte

Index
THE BASES OF DIAGNOSTIC REASONING The two-step approach to diagnosis MAIN SYNDROMES Regional syndrome
Periarthcular Pain Joint Pain Neurogenic Pain Referred Pain

Generalized pain syndrome Low back and neck pain Articular syndrome Osteoporosis syndrome Bone syndrome Muscle syndrome Systemic syndrome Paediatric syndromes FUTHER EXPLORATION OF ARTICULAR SYNDROMES Patterns of degenerative joint disease Patterns of inflammatory joint disease

Monoarthritis Acute monoarthritis Chronic monoarthritis Chronic symmetrical additive peripheral polyarthritis Chronic asymmetrical oligo/polyarthritis Arthritis of limb girdles Acute oligo- or polyarthritis/Febrile arthritis/ Arthritis with manifestations of the skin and mucous membranes Inflammatory low back pain Polyartritis with systemic manifestations

THE OPTIMAL ENQUIRY AND EXAMINATION IN RHEUMATOLOGY Focus on relevant issues Assess the validity of information Listen to the patient Examine properly Weight your words. Summarize the data THE ROLE OF LABORATORY TESTS IN RHEUMATOLOGY KEY SUMMERY POINTS

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THE BASES OF DIAGNOSTIC REASONING

Educational research has shown that the main difference between a novice and an expert in clinical diagnosis resides not on knowledge (the trainee may be at the highest level in this respect) but on speed and agility during the diagnostic process. This is based on the ability of the expert to recognize patterns and to identify clues and follow trains of thought. To abstract representations of diseases and syndromes that shortcut precise pathways of reasoning, thus leading to a faster end result. The expert follows a map, the novice is building one! Research suggests that expert clinicians have their clinical knowledge organized around patterns or illness scripts 1,2 strongly connected to summary problem representations. This non-analytic reasoning, guided by scripts, concepts and representations, is an essential component of expertise in diagnosis. We can think of no better way to convey these concepts than by using Judith Bowens recent paper on clinical reasoning published by the New England Journal of Medicine. 3 The author departs from a hypothetical clinical case and its description by a novice and an experienced resident. Patients history: My knee hurt me so much last night, I woke up from sleep. It was fine when I went to bed. Now its swollen. Its the worst pain Ive ever had. Ive had problems like this before in the same knee, once 9 months ago and once 2 years ago. It doesnt bother me between times. Novice residents presentation: My next patient is a 54-year-old white man with knee pain. It started last night. He does not report any trauma. On examination, his vital signs are normal. His knee is swollen, red, and tender to touch. It hurts him a lot when I test his range of motion. Hes had this problem twice before. Expert residents presentation: My next patient is a 54-year-old white man with a sudden onset of pain in his right knee that awakened him from sleep. He does not report any trauma and was essentially asymptomatic when he went to bed. His history is remarkable for two episodes of similar, severe pain 9 months and 2 years ago. He is pain-free between episodes. He is afebrile today. His knee is swollen, tender to touch, and erythematous. Consider the main differences between the two presentations. As noted by Bowen, the novice resident transformed the patients story a little but without any particular structure. Key elements of the Clinical Diagnostic Reasoning Process are not apparent or structured. The expert resident transformed the patients story into a meaningful clinical problem, an early impression. This can be designated as the problem representation. It is an extremely important early step of the diagnostic reasoning process.

1 2

Eva KW. What every teacher needs to know about clinical reasoning. Med Educ 2005;39:98-106 Elstein AS, Schwarz A. Clinical problem solving and diagnostic decision making: selective review of the cognitive literature. BMJ 2002;324:729-32. 3 Bowen, J L. Educational Strategies to promote clinical diagnostic reasoning. New Engl J Med 355;21:2217-25, 2006. 3
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Eular On-line Course on Rheumatic Diseases module n1 Jos A.P. da Silva, Karen Lisbeth Faarvang, Catia Duarte

This first representation guided his choice of additional questions and helped focus his clinical examination. The patients words are translated into abstract , clinically relevant, terms. Last night becomes acute onset, Ive had this problem before becomes recurrent, ...3 . He presented a succinct summary of findings, which was dense in relevant information, highlighting the defining features of the condition and the features that helped discrimination from alternative diagnosis. His description, made into one sentence might have been this: Acute recurrent monoarthritis in an otherwise healthy middle-age man. Of course adequacy and precision of language are absolutely crucial for the efficacy of the process. Although clinicians may not be aware of this process, the summary description, representation of the problem helps to elicit the relevant information from memory and guides the subsequent diagnostic workout. The inability to produce appropriate problem summaries and representations will result in the exploration of multiples diagnostic hypotheses derived from isolated findings. A wrong summary will lead to wrong diagnosis. For this reason, the reader is strongly stimulated to exercise his/her ability to scrutinise and summarize information, checking for its validity, as the clinical exploration evolves. The two-step approach to diagnosis. In the end we all follow a map, a route of non-analytic reasoning. Being aware of it will hopefully guarantee that it is based on evidence and solid experience rather than misconceptions or unquestioned common wisdom. Although experience is considered indispensable to design your own map this chapter attempts to offer an example of one, in trying to call the readers attention to his/her own map and the need to regularly check its accuracy. Please be sure to be critical all the way, starting by the map we are offering you! We are sure you can improve it!

We propose a two-step approach to diagnosis 4 . The first step aims to define the generic type of pathology, that is, to set a main syndrome. Using the travel analogy we could say that these main syndromes are neighbourhoods in rheumatology town. Step two involves a more detailed investigation which is adapted to each syndrome and aims to differentiate between potential causes of that syndrome, thus making a final differential diagnosis. This approach allows us to identify precisely the main defining characteristics of each main syndrome and the most important clues to differentiate between similar conditions and evaluate their severity. This is what finally really matters for your clinical decisions. These should, obviously, be the guides and focus of our strategic questioning and examination. The practicing clinician should be as precise and detailed as possible on aspects that should matter to his reasoning and decision while trying to be economic and fast on dismissing background noise. Hopefully, this will help the reader to build and maintain a faster and reliable map for clinical expertise in rheumatology.

Reumatologia Prtica. JAP da Silva. Diagnosteo, Publishers. Coimbra. Portugal. 2004. 4

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Eular On-line Course on Rheumatic Diseases module n1 Jos A.P. da Silva, Karen Lisbeth Faarvang, Catia Duarte

MAIN SYNDROMES
The aim of our first step is to establish the main syndrome which is most representative of our patients clinical picture (pattern recognition). The main syndromes proposed below represent our diagnostic strategy, matured and revised over the years. Other experts may identify other operating patterns deemed useful for their clinical practice. Figure 1 - Main rheumatological syndromes 5

Figure 1 presents a short list of the nine main syndromes we propose as a way of organizing the first step of diagnosis. In the following text we will explore the core characteristics of each syndrome and its differentiation from others. We will leave the final steps of the clinical diagnostic pathway to the individual chapters dealing with specific conditions. It is important to keep in mind that individual syndromes are not mutually exclusive. The presence of one pattern does not exclude another. Rheumatic diseases are extremely variable in their presentation: different syndromes may be suggested in consecutive patients with the same disease. Seronegative spondyloarthropathies, for example, could present with oligoarthritis in one case and with pure low back pain in the next. In some other cases periarticular involvement or polyarthritis will dominate the picture requiring completely diverse differential diagnosis workouts. Our map must be flexible enough to allow for this variability and we must make sure that neon signs suggest the

Published under permission. Diagnsteo, Publishers. Coimbra, Portugal. 5

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Eular On-line Course on Rheumatic Diseases module n1 Jos A.P. da Silva, Karen Lisbeth Faarvang, Catia Duarte

possibility of seronegative spondylarthropathies in all those neighbourhoods. This will allow us to quickly reach the right diagnosis whatever the dominant presenting symptom.

Regional Syndromes
Regional syndromes are characterized by pain that affects a single musculoskeletal area (e.g.: shoulder, hand, or knee). Questioning and examination will allow the distinction of four main origins: 1) Periarticular pain 2) Joint pain 3) Neurogenic pain 4) Referred pain The area involved offers an important clue: periarticular lesions predominate in the shoulders and elbows whereas joints are more commonly the cause of pain in the forefeet and knees. The most common patterns of neurogenic pain are sciatica and carpal tunnel syndrome.

Periarticular Pain

Periarticular pain originates in anatomical structures that are involved in joint motion but are located outside the joint capsule. Conditions affecting the capsule actually produce clinical features that are similar to those of intra-articular conditions. These structures are often the site of disease, which is usually inflammatory, as a result of repeated local trauma (e.g. intensive use of the hands or shoulder) or as local manifestations of systemic synovial diseases, like rheumatoid arthritis. Inflammation of the tendon and ligament insertion points may occur in isolation, such as after trauma and occasionally may have no apparent cause. On the other hand, recurrent and multiple tendon insertion inflammation can be a feature of seronegative spondyloarthropathies. A periarticular origin is especially suggested by pain that is elicited or worsened by specific movements, which involve or compress the inflamed structure. Other movements are not painful, nor limited (selectivity of painful movements). Although the condition is usually inflammatory in nature, the rhythm of pain tends to be mechanical, i.e. made worse by movement and relieved by rest without joint stiffness. Another clue from questioning resides in pain that is made worse in positions that induce a compression of the structure (e.g., increased pain by lying on the affected shoulder, in rotator cuff tendonitis). On clinical examination, patients with periarticular lesions will have more pain on active than on passive motion (make sure your patient is relaxed on passive movement to assess this clue properly). Passive movement is not limited in periarticular lesions. This is to be expected as the inflamed structure remains at rest during passive motion. Conversely, patients with joint lesions tend to have pain of similar intensity on active and passive motion and may show limitation of passive motion. Resisted movements involving the inflamed structure will cause intense pain. Such manoeuvres do not cause aggravation of pain when the problem is purely intra-articular. Palpation directly on the inflamed structure will cause pain as opposed to the diffuse pain along the joint margins, suggestive of arthritis. Swelling, heat and redness are usually not seen, except in acute inflammation of superficial bursae.
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Eular On-line Course on Rheumatic Diseases module n1 Jos A.P. da Silva, Karen Lisbeth Faarvang, Catia Duarte

Joint Pain

A lesion that affects a single joint will, obviously, result in a regional syndrome. The pain is related to the use of the joint. Contrary to periarticular lesions, however, all movements tend to cause pain. Physical examination will also show pain in all movements, with active and passive movements being similarly painful. Passive joint motion is frequently limited due to swelling or structural damage. Resisted movements do not cause exacerbated pain (as expected: the joint remains still during such manoeuvres). Affected joints are frequently tender on palpation along the joint margins. Crepitus, swelling, effusion and articular heat can, when present, make the involvement of the joint obvious.

Neurogenic Pain

Neurogenic pain is caused by the compression or irritation of nerve roots or peripheral nerves. Sciatica, carpal tunnel syndrome and ulnar nerve syndrome are the most common examples in practice. Neurogenic pain is typically disaestesic (burning, tingling, numbness, electric shock), and affects the sensitive area of a particular nerve or root. Pain derived from root lesions is exacerbated by mobilization of the affected spine segment or, more rarely, by Valsalvas manoeuvre. In the absence of associated pathology, regional musculoskeletal examination is normal. Guided neurological examination is the key to the diagnosis (e.g.: sensibility, muscle strength, straight leg rising, Tinnels test, tendon reflexes). Because detailed neurological examination is not routinely performed by many physicians, the diagnosis can be easily missed if the enquiry fails to elicit the clues. Keep in mind that muscle atrophy (as in carpal tunnel syndrome) and loss of pinprick sensation are late features in root lesions and nerve compressions.

Referred Pain

Referred pain refers to symptoms felt at a distance from their anatomical origin. Localized musculoskeletal pain can be referred from internal viscera or , more rarely, other joints. The pain has uncharacteristic rhythm, more affected by the physiology of the viscera than by joint movement and may be accompanied by suggestive symptoms. Local examination is normal. Figure 2 shows the most common sites of musculoskeletal pain of visceral origin.

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Eular On-line Course on Rheumatic Diseases module n1 Jos A.P. da Silva, Karen Lisbeth Faarvang, Catia Duarte

Figure 2 - Most common sites and origins of referred pain

Table n1 - Distinctive features of regional syndromes

Periarticular Pain Selective painful movements Articular pain All joint movements are painful Neurogenic pain Disaestesic. Aggravated by compression of nerve or mobilization of the spine Normal. If root pain: Pain on motion of the affected spine segment Normal Referred Pain Unrelated to movement. Visceral timing

Enquiry

Pain on motion

Active> passive. Selected motions

Active ~ passive Several directions

Normal

Range of Motion

Resisted mobilization Local Palpation

Active motion can be limited by pain. Passive motion: full Pain on specific manoeuvres Pain upon affected structure

Can be limited in active and passive motion No effect Possible: Crepitus, swelling, effusion, heat. Pain along joint margin Normal

Normal

No effect Normal

No effect Normal

Neurological examination

Normal

May be abnormal

Normal

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Eular On-line Course on Rheumatic Diseases module n1 Jos A.P. da Silva, Karen Lisbeth Faarvang, Catia Duarte

Generalized Pain Syndrome

In this syndrome, pain affects different parts of the body diffusely and imprecisely, with little or no focus on joints. Fibromyalgia accounts for the majority of the cases of generalized pain syndrome. Patients often use or agree with the expression pain all over. Pain is often migratory and worse after, rather then during, exercise. Exposure to cold and stress are frequently recognized as aggravating factors. It is common that other symptoms are present like stress headaches, migraine, irritable bowel syndrome, tight chest, depression, insomnia. Fibromyalgia patients may present with different patterns of dominant symptoms, which can be misleading. Not rarely, these patients are misdiagnosed and treated for a variety of conditions, including rheumatoid arthritis, ankylosing spondylitis, disc herniation, etc. These patients must be carefully examined to discard joint inflammation, neurological abnormities and any other possible explanation for their complaints. Laboratory tests and imaging should be normal or at least inadequate to explain the symptoms. The wise clinician will keep in mind the limitations of the existing criteria for fibromyalgia, especially with respect to the tender point count. Other rheumatic and metabolic conditions may involve widespread pain above and below the waist bilaterally: rheumatoid arthritis, systemic lupus erythematosus, Sjgrens syndrome, polymyalgia rheumatica, ankylosing spondylitis, polymyositis, hypothyroidism, hypoparathyroidism, polyneuropathy, debilitating systemic diseases. Careful questioning and examination together with minimal investigation is usually sufficient to clarify the diagnosis. The association of fibromyalgia with any other rheumatic condition is common and represents some of the most difficult clinical situations in rheumatology.

Low Back And Neck Pain

Back and neck pain is extremely frequent in medical practice. However, the vast majority of cases will escape precise aetiological diagnosis even after meticulous investigation. This is due to the complexity of the spine, muscles, ligaments, nerves and supporting soft tissues in the area leading to a multiplicity of potential causes. The contribution of current diagnostic methods to clinical diagnosis is very limited. The correlation between even sophisticated imaging and clinical manifestations is poor. Used inappropriately, imaging can, actually, lead to more problems than solutions in this area. We know that in the vast majority of cases it will be impossible to make a precise diagnosis and therapy will be guided by general rules of pain management, exercise and risk factor control. Only a small percentage of cases involve a specific aetiology requiring special diagnostic and therapeutic action. However, the underlying causes are potentially treatable and can be life-threatening, such as metastases and infection. They cannot be missed! The first group can be designated as non-specific low back pain or non-specific neck pain. Faced with subjective information and unreliable investigations, the wise clinician will focus on clinical manifestations, pain intensity and disability, more than aetiology, while keeping a careful vigilance for any clues that may suggest a potentially serious and/or treatable cause for each individual case. The most recommended strategy for back and cervical pain is based on the search and recognition of alarm symptoms and signs, red flags that indicate a higher probability for an underlying specific cause. Table 2 summarizes the most common causes of low back pain, according to the presence or absence of red flags.
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Table n2 - Common causes of low back pain, suggestive manifestations and red flags. Red Flags Back pain with inflammatory rhythm Localized pain Nocturnal pain Visceral or constitutional symptoms Onset before age 30 or after 50 Pain at movement in all directions History of neoplasm Risk or evidence of osteoporosis Neurological manifestations No Red flags

Sacroiliitis Spondylodiscitis Metastases Osteoporotic fracture Neurogenic pain Referred pain Interspinous ligamentitis Acute mechanical low back pain Chronic mechanical low back pain Fibromyalgia

In most cases the pain has a mechanical rhythm. It is triggered by movement and relieved by rest. In adults, most of these conditions are caused by spondyloarthrosis. In many other cases, particularly in young people, there is no apparent cause for the pain, and it is thought to be the result of mild articular instability and irritation of the nerves and muscle bundles leading to painful reflex muscle contractions. Both situations should be treated conservatively, aiming to relieve the pain and restore function, without any specific aetiological intervention. In a few cases, the pain may be neurogenic, inflammatory, infectious, neoplastic or psychogenic in origin. The clues for such special conditions are similar to those described above. The possibility of referred pain, from the heart, lung apex and shoulder must be kept in mind. Acute lymphadenopathy, thyroiditis and meningitis represent important non-rheumatic causes of neck pain.

Articular Syndrome
Arthropathies, i.e., diseases affecting the joints, are at the heart of rheumatology. Final diagnosis will involve the identification of a specific disease, the evaluation of its activity, accumulated damage, functional impact and prognosis. On the first step we have to recognize that this is an articular syndrome. As described above, this is suggested by pain that emerges with virtually all movements of the joint (as opposed to selective pain found in periarticular lesions). Patients can usually locate the pain precisely over the joint(s) involved (as opposed to muscle or diffuse pain, as in muscle disease or fibromyalgia). On examination, pain has similar intensity with active and passive mobilization and both can be limited in range (passive motion should not be limited in purely extra-articular lesions). Resisted movement will not affect the pain. Palpation will typically cause pain along margins of the joint. The presence of crepitus, heat, swelling or effusion of the joint will confirm the articular origin of the problem. On the second step, the most important goal is to evaluate the clues of degenerative versus inflammatory joint disease. Enquiry and physical examination are critical in this respect.
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Degenerative joint disease (osteoarthritis) is typically associated with mechanical pain: pain that increases with repeated use of the joint and is worst at the end of day. Pain intensity decreases during rest, is rarely present at night and the patient can usually find a pain-free position. Patients can describe that pain increases again after resting and this may be accompanied by gelling, stiffness that subsides in 2-3 minutes. Early morning stiffness associated with degenerative arthritis ceases in a few minutes (<10). Conversely, in active inflammatory disease, pain is worst in the morning and is relieved by continued use of the joint. The patient may have pain during the night, not related to movement in bed and cannot identify a pain-free position. Morning stiffness lasts for longer than 30 minutes and post-rest stiffness may persist for more than 5 minutes. Associated extra-articular manifestations may accompany a variety of inflammatory arthritis but they are absent in degenerative joint disease. It is noteworthy that degenerative joint disease, osteoarthritis, has an inflammatory component, which translates in occasional inflammatory flares. During such periods associated pain may have an inflammatory tinge, such as more prolonged morning stiffness or pain at night rest. Longstanding but inactive inflammatory arthritis will, obviously, be associated with mechanical pain. Keep in mind that the rhythm of pain can be misleading if applied to non-articular pain. Pain associated with fibromyalgia or carpal tunnel syndrome has inflammatory features, such as morning predominance, although there is no underlying inflammatory process. Conversely, pain from tenosynovitis may have a mechanical rhythm. Be aware of exceptions and loopholes in every rule! Physical examination will support degenerative joint disease if rough crepitus, focal pain along the joint margin and/or osteophytes are found. Effusion can be present in later stages of the disease. In Inflammatory disease we can find articular swelling of a firm rubbery consistency, which is a sign of an inflamed, engorged synovium and associated effusion. As the synovium is limited by the capsule, this swelling is uniform spindle shaped and globular in superficial joints. Local heat is frequently found but redness is uncommon, except in gout, septic and psoriatic arthritis. Even septic arthritis can be present without noticeable redness of the overlying skin. Of course, the age of the patient, the mode of onset and distribution of affected joints will also influence our differential diagnosis of degenerative and inflammatory arthropathies. Joint affections before the age of 40 will almost always be inflammatory if not traumatic. Inflammatory arthritis will usually establish itself in a matter of hours to weeks, whereas patients with degenerative joint disease tend to visit the physician only after years of increasing pain. Both inflammatory and degenerative joint diseases tend to follow certain patterns of distribution, which, when present, reinforce the diagnostic basis. Consideration of these patterns will also get us closer to a final diagnosis. This is still part of our second step. For clarity reasons, the differentiation between patterns of inflammatory arthritis is explored at the end of this chapter.

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Osteoporosis Syndrome
This is characterized by the presence of risk factors for osteoporosis. Although not a real syndrome we believe this is a useful construct as osteoporosis is a common disease and the ideal time for intervention is before any symptoms occur. It is, therefore, important to search for risk factors and take proactive action including preventive measures, bone densitometry or other investigations, as appropriate. Risk factors for osteoporosis and fractures include post-menopausal status, early menopause, late menarche, low weight and height, prolonged gluococorticoid therapy, sedentary lifestyle, insufficient intake of dairy products, family history of osteoporosis or fracture. Treatment with glucocorticoids deserves special attention by rheumatologists. Some diseases can lead to secondary osteoporosis, including hyperthyroidism, hyperparathyroidism, malabsorption, chronic alcoholism and liver disease. In almost all cases osteoporosis should be identified as a side issue, thanks to the physicians consideration of relevant factors in a patient that consults for a totally different reason.

Bone Syndrome
It is characterized by deep, diffuse, continuous pain, unrelated to movement. Frequently pain will be worse at night and disturb the patients sleep. More commonly it will affect the spine, pelvis, and the proximal segments of the limbs. The local examination is usually normal. These features should raise the hypotheses of bone tumours, metabolic bone diseases or inflammation of the periosteum. Metastatic tumours are the most common neoplasms of bone and bone is the third most common site of metastasis after lung and liver. Pain due to a metastatic lesion may be the first symptom of the underlying malignancy.

Muscle Syndrome
The pathological involvement of muscles is most commonly reflected by predominantly proximal weakness and muscular atrophy. Myopathic patients may have difficulty going up and down stairs, getting up from a low chair or combing their hair but their handshake is firm and they can walk on tiptoe. Neurological examination may show decreased proximal muscular power, and muscle tenderness. Muscle atrophy is a later and inconstant finding. Polymyositis, dermatomyositis and inclusion-body myositis are the most typical causes of this pattern. Arthralgia and low-grade arthritis may also occur, especially when inflammation of muscle occurs as part of a connective tissue disease, such as systemic sclerosis or mixed connective tissue disease. Differential diagnosis of adult polymyositis must include a broad array a conditions capable of affecting skeletal muscle. Hypothyroidism, sarcoidosis and especially osteomalacia must be considered in this clinical context, as the myopathy associated with these conditions may dominate the clinical presentation. Muscle pain and stiffness of the proximal limb girdles, characteristic of polymyalgia rheumatica may be interpreted as myopathy. The confusion may be increased in the case of giant cell arteritis, because of constitutional fatigue and weakness.

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Rheumatologists should also give special attention to commonly used medications which can cause neuromuscular complications, including glucocorticoids, hydroxychloroquine, colchicine, cyclosporine, statins and fibrates among many others. Non-inflammatory myopathies must also be considered and they include an enormous variety of neurological conditions such as spinal muscle atrophies, myasthenia gravis, myotonic diseases, congenital myopathies and storage diseases.

Systemic Syndrome
All inflammatory joint diseases may be accompanied by extra-articular manifestations, involving other organs and systems. Looking for these extra-articular clinical manifestations is therefore a critical part of the investigation of rheumatic conditions. In many cases, these manifestations occur together with polyarthritis, which may constitute the basis for our subsequent differential diagnosis. In some patients these manifestations clearly dominate the clinical picture thus establishing a systemic syndrome as the best basis to further explore the diagnosis. The most common and relevant manifestations are presented in Table 3. Connective tissue diseases are the most common causes of systemic syndrome. Their distinction is based on the predominant clinical manifestations of each disease (Table 4). The clinician must, however, exercise flexibility here as overlap between different diseases is extremely common. Vasculitis includes a large number of different conditions with proteomic manifestations. This is further explored in a dedicated discussion in this module. Stills disease typically presents, in both children and adults, with a systemic syndrome dominated by fever, rash, weight loss and lymphadenopathy and leukocytosis in addition to arthritis. Serositis, pneumonitis, hepatomegaly, myalgia may also be present in a complex multisystemic clinical scenario demanding differential diagnosis with connective tissues diseases, vasculitis, malignancy and infection, among others. Occasionally, reactive arthritis may be dominated by extra-articular features, such as uveitis, nephritis, carditis, gut and eye inflammation. Sarcoidosis should be especially considered in the presence of lymphadenopathy, erythema nodosum, lung, eye or liver involvement. Relapsing polychondritis, Familial Mediterranean fever may also deserve consideration in the context of a systemic syndrome, but they are relatively rare and associated with suggestive features.

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Table n3 - Main systemic manifestations associated with rheumatic diseases

Associated diseases (in descending order of frequency) Constitutional manifestations Fever Weight loss Severe fatigue Systemic lupus erythematosus Systemic sclerosis Rheumatoid arthritis Mixed connective tissue disease Vasculitis Systemic lupus erythematosus Systemic sclerosis Dermatomyositis Mixed connective tissue disease Overlap syndromes Vasculitis

Skin manifestations Photosensitivity Skin rash Scleroderma Purpura Livedo reticularis Ulcers Alopecia Telangiectasia Heliotrope Gottrons papules Mucosal manifestations Oral and genital aphthae Dry eyes and mouth Red eye Balanitis Serositis

Sjgrens syndrome Systemic lupus erythematosus Rheumatoid arthritis Reactive arthritis Ankylosing spondylitis Behets disease and other vasculitis Connective tissue diseases (SLE) Rheumatoid arthritis Idiopathic Raynauds phenomenon Systemic sclerosis Systemic lupus erythematosus MCTD Vasculitis Antiphospholipid syndrome Antiphospholipid syndrome Systemic sclerosis Connective tissue diseases

Raynauds phenomenon

Arterial or venous thrombosis Recurrent abortion Dysphagia Dyspnoea Lower limb hypertension Lymphadenopathy Muscular weakness Convulsions Psychosis Peripheral neuropathy oedema

Connective tissue diseases Connective tissue diseases Myositis Overlap syndromes Systemic lupus erythematosus Vasculitis

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Table n4 - Manifestations associated with the different connective tissue diseases. The number of + reflects the weight of the manifestation as an argument in favour of a diagnosis.In secondary antiphospholipid antibody syndrome Hypertensive crisis, drop in creatinine clearance. Systemic lupus erythematosu s Constitutional symptoms Arthritis +++ + ++ + Rare +++ ++ + ++ + Systemic sclerosis Polymyositis Dermatomyositis Mixed connective tissue disease + +++ Vasculitis

Diffuse swelling Rare of the hands Photosensitivity Cutaneous sclerosis Erythema Vasculitic lesions Raynauds Hair loss Sicca syndrome Uveitis Serositis Arterial venous thrombosis* Miscarriages* CNS Muscular Digestive Haematological Renal Pulmonary + + +++ +++ + ++ and + + ++ ++ ++ + +++ -

+ +++

+++ -

+ +

++ Rare

+ Rare

+++

+++ ++ ++

+ Rare +

++ Rare ++

+ Rare -

Rare

Rare

++ Rare

+++

Rare Rare + ++ ++ ++

Rare Rare +++ + Rare +

Rare Rare ++ ++ ++ + ++

Rare + + ++ ++

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Paediatric Syndromes
Many of the rheumatic conditions that affect children are similar to adult diseases. However, some are specific to children. All of them have special features that deserve consideration and must be seen in a specific context of differential diagnosis. The enquiry and examination require an adapted strategy and dedicated skills. For these reasons, the clinical approach to paediatric rheumatic syndromes is addressed in an in-depth discussion in this module.

FUTHER EXPLORATION OF THE ARTICULAR SYNDROME

Once we establish that the patient has an arthropathy, it is useful and usually simple to separate degenerative from inflammatory arthritis. The second step of diagnosis is helped by the consideration of different patterns of presentation.

Patterns of degenerative joint disease

Typical osteoarthritis develops in middle age or elderly people and gets slowly worse over time. Weight bearing joints like the hip, the knee and the spine are the most common sites of osteoarthritis. Note, however, that the first carpo-metacarpal and the interphalangeal joints are commonly involved whereas the ankles, are usually spared. Nodal osteoarthritis is considered as a typical osteoarthritis. In this case, proximal and distal interphalangeal joints of the hands are involved. It is often hereditable and is more common in middle age and elderly women. Pain frequently presents a mixed rhythm and inflammatory flares are common. Typical osteoarthritis is common, strongly related with ageing, workload and genetic predisposition. No specific cause can be identified (primary osteoarthritis). Atypical osteoarthritis is suggested by odd characteristics, such as affection of younger patients or uncommon locations such as the shoulders, elbows, or metacarpophalangeal joints. It tends to develop faster than typical osteoarthritis. Such features should alert the clinician to a suggestion of a secondary osteoarthritis e.g. degenerative disease due to a specific cause, which should be identified and treated if possible (table 5). Table n5 - Most common causes of secondary osteoarthritis. Fracture involving the articular surface arthritis Meniscectomy Articular instability Intra-articular loose bodies Osteochondritis dissecans Particularly demanding occupations Preexisting Axial deviations Aseptic necrosis Chondrocalcinosis

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Patterns of inflammatory joint disease

The Inflammatory articular syndrome is suggested by pain with inflammatory rhythm and confirmed by the demonstration of joint inflammation (diffuse elastic swelling around the joint with or without redness and heat). When evaluating a patient with arthritis, it is important to determine: 1) which joints are affected and their pattern of distribution, 2) how the condition began and how it developed over time 3) the presence or absence of inflammatory low back pain 4) accompanying extra-articular manifestations Once you have this information, you may classify the arthritis according to a number of parameters, which will help you find and support a final diagnosis: Number of joints affected Monoarthritis: one single joint involved Oligoarthritis: 2 to 4 joints involved Polyarthritis: 5 or more joints involved Acute versus Chronic Acute: onset in hours or days Chronic: onset over weeks or months Additive versus Migratory Additive: the affected joints are added progressively Migratory. The inflammatory process flits from one joint to another Persistent versus Recurrent Persistent: once it has set, the arthritis persists over the time Recurrent: episodes or crisis of arthritis separated by symptom-free intervals predominantly Proximal versus predominantly Distal Proximal: arthritis mainly involves large joints, i.e., proximal to the wrist or ankle, and the spine Distal: the arthritis mainly involves the small joints of the hands and feet, with or without the wrist and ankle Symmetrical versus Asymmetrical Symmetrical: affects approximately the same joint groups of each side of the body Asymmetrical: there is no relationship between the joints involved on either side of the body With or without inflammatory low back pain With or without systemic manifestations

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The appropriate use of this classification represents the most important step in the differential diagnosis of arthritis. We suggest that you always try to represent your patients condition with as few words as possible, making a problem representation in one sentence: e.g. asymmetrical oligoarthritis, with inflammatory back pain or acute arthritis with fever and rash. This will make the final diagnosis a lot easier and reliable. Below, we describe the most common patterns we use in practice. Be critical of them: you may find that other patterns work best for you.

Monoarthritis

It is useful to separate acute (onset over hours or days) from chronic monoarthritis. Acute monoarthritis. The most common cause of acute monoarthritis is gout and trauma, but this condition should be considered infectious until proven otherwise, because septic arthritis is rapidly destructive and can be life-threatening if not properly treated. The classical presentation of septic arthritis involves the rapid onset of intense pain, redness and swelling in a single joint. Systemic symptoms like fever, malaise could be present. Note, however, that onset may be prolonged over days and inflammatory signs may be relatively mild. When in doubt it is wise to ask for bacterial cultures of synovial fluid. Gout is the most common cause of acute monoarthritis. First episodes involve one of the first metatarsophalangeal joints in 50% of cases. This is a remarkable feature that demands equal consideration of the obvious alternative: another joint is affected in every second case! Pain has a sudden onset, frequently at night, and reaches its maximum in a matter of hours. The affected joint is typically swollen, bright red, hot and extremely tender. Systemic symptoms such fever and malaise could be present. Initial episodes of gout almost always follow a monoarticular recurrent pattern with symptom-free intervals, predominantly in the lower limbs. With time, intervals become shorter, the upper limbs also become involved and more than one joint can be affected in each episode, occasionally leading to a polyarticular pattern. Definite diagnosis of gout demands the demonstration of monosodium urate crystals in the synovial fluid. Other causes of acute monoarthritis include pseudo-gout (calcium pyrophosphate dihydrate disease) and post-traumatic synovitis. Palindromic rheumatism, reactive arthritis, psoriatic arthritis and bacterial endocarditis must also be considered. Reflex sympathetic dystrophy can pose difficult differential diagnosis with acute and chronic monoarthritis Chronic monoarthritis. Monoarthritis can have an indolent course, lasting from weeks to months. The main possible causes include infection (brucella, mycobacterium, Lyme disease, others), crystal induced arthritis and monoarticular presentation of oligo- or polyarthritis (juvenile idiopathic arthritis, reactive arthritis, sarcoidosis, seronegative spondyloarhropathy). Differential diagnosis must incorporate causes of non-inflammatory arthropathy, such as osteoarthritis, recurrent hidrarthrosis, osteonecrosis, reflex sympathetic dystrophy, neuropathic (Carchots) joints and tumours, including villonodular synovitis. The aetiological diagnosis of chronic monoarthritis usually requires synovial biopsy with pathological and bacteriological examination. Some reports suggest that PCR techniques should be employed to identify latent infections. In a large number of cases, no specific cause can be identified.
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Chronic symmetrical additive peripheral polyarthritis

This pattern describes joint inflammation involving, simultaneously, five or more joints (polyarthritis), for more than six weeks (chronic). Small joints of the hands and feet are predominantly affected, with or without the wrist and ankle (peripheral), and approximately the same joints are involved on each side of the body (symmetrical). The affected joints have been added progressively (additive). There should be no inflammatory low back pain (see below). The most common cause for this pattern is rheumatoid arthritis, and this is the most common pattern of presentation for this disease. Onset of especially aggressive disease may be accompanied by constitutional manifestations such as fever and lymphadenopathy. This could suggest a systemic syndrome but articular manifestations dominate the clinical picture in the vast majority of patients. Other systemic manifestations may occur but they are usually milder than arthritis, tend to occur later in the course of disease and are becoming less frequent with timely and effective treatment of rheumatoid arthritis. This pattern of arthritis is common to other rheumatic conditions, especially other connective tissue diseases, such as systemic lupus, primary Sjgrens syndrome, polymyositis and mixed connective tissue disease. Psoriatic arthritis can also present with this pattern (pseudo-rheumatoid form) although it tends to be more asymmetric, and involve either the distal interphalangeal or the sacroiliac joints. Differential diagnosis can be difficult but some would say that the presence of rheumatoid factor excludes psoriatic arthritis. Chondrocalcinosis deserves consideration especially in older patients. A pre-existing pattern of degenerative disease with recurrent inflammatory episodes may suggest this condition, but it is not always present. Polyarticular gout may have a similar pattern of distribution. However the onset tends to be abrupt and it is almost invariably preceded by a period of recurrent monoarthritis in the past. Viral arthritis, such as those associated with parvovirus B19, HIV and hepatitis, may follow a similar pattern but tend to have a more acute onset than rheumatoid arthritis or the connective tissue diseases. The clinical contribution to differential diagnosis relies on careful evaluation of extra-articular manifestations. Several investigations may be useful for this purpose, depending on the clinical scenario.

Chronic, asymmetrical oligo/polyarthritis

This describes an asymmetrical arthritis for more than 6 weeks (chronic), affecting 2 or more proximal or distal joints (oligo/polyarthritis). Dactilitis or involvement of distal interphalangeal joints is a common but not mandatory feature. Psoriatic arthritis is the most common cause of this pattern. Personal or family history of psoriasis will provide support for this diagnosis. When the arthritis is limited to proximal and distal interphalangeal joints, hand osteoarthritis needs to be considered as an alternative diagnosis. Although this has usually a slow development, it may evolve with acute inflammatory flares of these joints and cause erosions. Chronic sarcoid arthropathy may evolve with a similar pattern the inflamed joint tends to show a nodular asymmetric aspect as opposed to the spindle shape of psoriatic synovitis. Other seronegative spondylarthropathies, such as ankylosing spondylitis, may also cause this pattern of arthritis. Inflammatory back pain is expected in this condition but may not be obvious. Reactive arthritis or arthritis associated with inflammatory bowel disease may show this pattern but when distal joints are affected they usually adopt a symmetrical distribution.
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Other causes include incipient rheumatoid arthritis, juvenile idiopathic arthritis, polyarticular gout, pseudo-gout and Behets disease. Again, careful enquiry of axial and extra-articular manifestations may provide critical clues to the diagnosis.

Proximal oligoarthritis

Patients may present with arthritis involving predominantly proximal joints. The most common causes are the seronegative spondylarthropathies. A complete questioning and physical examination is important to differential diagnosis. The presence of inflammatory low back pain, personal or family history of psoriasis, inflammatory bowel disease, the occurrence of any infectious disease (infectious diarrhoea, urinary tract infection) on the weeks preceding arthritis must be explored in the enquiry. Other causes of proximal oligoarthritis include Behcets disease, juvenile idiopathic arthritis and incipient rheumatoid arthritis. Not rarely, arthritis with this pattern defies formal classification and is better described as unclassified oligoarthritis.
Arthritis of limb girdles

This is characterized by inflammatory pain with marked stiffness, affecting the hip and shoulder girdles. Physical examination finds features of arthritis of the shoulder and/or hips, occasionally with milder involvement of peripheral joints. Polymyalgia rheumatica is the paradigm of this pattern of arthritis. The patient is typically an elderly person, presenting with pain and stiffness in the neck, shoulders and hip area. Peripheral joints can be involved. Some extra-articular manifestations must be explored in questioning. Malaise, fever, fatigue, anorexia and weight loss are common features. Jaw claudication, temporal headaches and loss of vision, suggest associated temporal arteritis. Seronegative spondylarthropathies, incipient rheumatoid arthritis are alternative causes for this pattern of arthritis.
Acute oligo-or polyarthritis - Febrile arthritis - Arthritis with manifestations of the skin and mucous membranes

This is characterized by a rapid onset of oligo- or polyarthritis, often associated with a recent infection, fever or changes in skin and mucous membranes. This pattern suggests the possibility of reactive arthritis. In these cases, the patient is most often a young adult male. The enquiry should explore the occurrence of a significant infection within the two to three weeks prior to the arthritis. There is a wide variety of potential causal agents, but most frequently this will be gastrointestinal, genitourinary or upper respiratory infection. Reactive arthritis is frequently associated with manifestations in the skin (rash, erythema, pyoderma, plantar keratoderma...) and mucosae (conjunctivitis, urethritis, oral or genital ulceration, circinate balanitis). The pattern of articular involvement varies. Proximal oligoarthritis is the most common, but, for example, post-viral arthritis is often polyarticular, symmetrical and distal. Stills disease (in adults or children) is characterized by an acute or sub acute onset of arthritis, associated with fever, evanescent skin rash, weight loss, lymphadenopathy and/or splenomegaly. Systemic lupus erythematosus, dermatomyositis, Behcets disease and, occasionally, rheumatoid arthritis, may present with similar features and should be considered in the differential diagnosis.
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Inflammatory low back pain

This refers to low back pain that persists or predominates at night, does not relieve with rest but rather with movement and is associated with prolonged morning stiffness. This is always a significant clue that deserves clarification. Inflammatory low back pain is a typical manifestation of seronegative spondylarthropathies: ankylosing spondylitis, psoriatic arthritis, Reiters syndrome, spondylitis of inflammatory bowel disease. It is also a feature of Behets disease and infectious or aseptic discitis. In seronegative spondyloarthropathy the involvement of the spine is very common and could be accompanied with peripheral joints involvement or not. When the condition is strictly limited to the spine, ankylosing spondylitis becomes the most probable diagnosis. If peripheral joints are also involved, the pattern of distribution and the associated manifestations are the key to the final diagnosis. Psoriasis, inflammatory bowel disease, urethritis, conjunctivitis, uveitis, venous and arterial thrombosis, and mucosal ulcerations must be explored in questioning and examination.

Polyarthritis with systemic manifestations

This is characterized by polyarthritis with clear manifestations or strong suggestion of compatible systemic involvement. Systemic lupus erythematosus is the most common cause but other connective tissue diseases must be considered in face of this pattern of involvement. Reactive arthritis and viral arthritis could present with polyarticular involvement and are associated with systemic manifestations, although these are usually of a different nature. Stills disease may deserve consideration under this pattern.

THE OPTIMAL ENQUIRY AND EXAMINATION IN RHEUMATOLOGY

Whether we are aware of it or not, we begin our differential diagnosis with our first question and then test out, reinforce or eliminate hypotheses as the enquiry goes on. The ideal enquiry should be economical and critical.

Focus on relevant issues

By economical we mean, short, limited to relevant issues while comprehensive: no relevant issues should be left unexplored but irrelevant information should be discarded, and as soon as possible. This is important not only because the typical physician is always short of time but most of all because irrelevant information works as a distractor, as background noise, keeping your mind off what really matters. Mastery of this crucial ability requires that the clinician has a very clear view of what information makes a difference, what needs to be taken into account during the diagnostic process or treatment selection. Let us use an example. The sequence of involvement of joints in a polyarthritis makes no differences to the diagnosis: the interpretation of a chronic symmetric peripheral polyarthritis is the same irrespective of the first affected joints being the feet or the hands, the wrists or the MCP joints. This detail is therefore, irrelevant and should not be explored. We do not need to ask for the rhythm of pain in individual joints involved in polyarthritis.
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However, we must do that regarding an associated back pain. In most cases this will be nonspecific mechanical back pain with no added significance. On the contrary, low back pain with an inflammatory pattern is a crucial clue to the interpretation of peripheral polyarthritis. There is no absolute measure of the value of any piece of information that can be applied to every clinical setting. Be critical about the importance we give to any features, explore your own thoughts on this, be aware of your map and the signs that count within it. Focus on the issues that really matter for your reasoning, and make your own problem representation in one sentence.

Assess the validity of information

To make the enquiry work in an optimal way it is also crucial that you critically appraise the validity and the degree of certainty of each piece of information, question each partial conclusion and be aware of its impact on your reasoning. Your map is made of crossroads where you choice are guide by a signal or symptom. If you misread a signal youre bound to take the wrong road to the diagnosis. Pay good attention, especially to signs that drive you to a very different direction. Never forget to make an appropriate systems enquiry in patients with inflammatory arthritis. Symptoms and even signs are frequently poorly defined and subjective in Rheumatology. You cant always be sure to have read signs precisely. This is inherent to this field but we would suggest two ways to try and diminish the risks involved. One suggestion is that you discuss crucial symptoms with the patient in different ways, using variable expressions until you are certain to have understood exactly what the patient felt. It is very useful, for this purpose, to summarize your interpretation and negotiate it with the patient. This suggestion should stimulate you to keep an open critical mind on signals and symptoms that are influential but not very precise. When facing one, do what you would do while traveling: explore one direction, assuming the sign is real and reliable. Explore the alternative directions, i.e. different interpretations of that sign.

Listen to the patient

The recommendations above, if taken too strictly, can make you run the risk of directing the questioning so much, that your patients may not have an opportunity to express their main concerns. This must be absolutely avoided. Addressing the patients concerns is obviously core to the objectives of the clinical encounter. On top of that, patient clues will feed your lateral thinking, open your eyes around predetermined scripts, and keep you from disregarding relevant issues that were not brought up by your line of thought. Examples are numerous and common: a patient describing pain and stiffness around the shoulders is finally given an opportunity to refer his weight loss; back pain is finally related to a perforated ulcer when we listen to the patients digestive complaints; unexplained pain is clarified when we allow ourselves to listen to hints of anxiety and distress, etc. Give the patient a couple of minutes at the beginning of the enquiry. This will give you an idea of the capacity of the patient and focus the problem. Make sure that you hear the patients own story and not what other doctors have said.

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Literature has shown that specialists in ears, nose and throat interrupt their patients within 2 seconds from the start of an enquiry; there is no reason to believe that rheumatologists do this differently. Crucial information may, thus, be lost. Keep vigilance over whether your strategy allows enough room for the expression of all relevant information the patient may have for you. Be sure to always end your questioning by asking the patient: is there anything else troubling you that I havent asked about?

Examine properly.
Physical examination will play a major role in clarifying the diagnosis. Examination is extremely important to clarify the anatomical origin of the pain (articular, periarticular, muscle, neurogenic, etc), and the nature of the disease (degenerative, inflammatory, entrapment, ). Once you have finished enquiry, your mind will have a natural tendency to approach physical examination with a biased tendency to confirm expectations. It happens with everyone but this is a common cause of error and the wise clinician will keep it under scrutiny. If, before examination you are convinced that your patient has fibromyalgia, you may put slightly more pressure on the tender points, ignore doubtful signs of joint swelling or forget to explore the sacroiliac joints. Careful musculoskeletal examination can be performed in a short time and can be easily combined with an adequate general examination. Although this examination is not technically demanding it must be done with appropriate care and detail, or the diagnosis may be completely missed. Pain on movement of the ankles can be arthritis or Achilles tendonitis, for example, tenderness due to anserine bursitis may be wrongly taken as indicating arthritis, pronator syndrome will never be diagnosed without the proper examination techniques, trochanteric bursitis can closely mimic sciatica, etc. Counting joints and filling in protocols can actually drive you away from the actual patient. This is obvious, of course! However, we have been frequently surprised with the lack of examination skills presented by advanced trainees and even experienced rheumatologists. The methods used to examine the same joint or muscle vary enormously among physicians. Some are better than others. It seems that many of us believe that clinical examination skills come naturally and few centers devote any specific efforts to the teaching and assessment of examination skills. Well, be sure you are doing it properly these are the very foundations of clinical excellence.

Weigh your words. Summarize the data.

We also suggest that you try to define each symptom or syndrome with as few words as possible. Be aware of the exact meaning and implication of each word, on others and on yourself. Once you decide or say that a patient has arthritis you allow yourself and others to exclude muscle pain or periarticular lesions from consideration. Being aware of what it takes to say that a patient has arthritis, you may consider using the word arthralgia, or inflammatory arthralgia, or arthropathy to refer to less defined conditions. This exercise will help you to scrutinize the validity for each piece of data you use. Using words that are as specific as possible, but only as possible, will enhance the precision of your communication with others and of your own reasoning process.

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By summarizing the data you focus on what is relevant, diminish the impact of background noise and enhance the clarity and efficiency of your reasoning. Of course, the background information will still be there! You will still be able to recall the nuances of the symptoms or signs of the patient and value these when needed in the diagnostic process. Most nuances are not crucial for diagnosis: there is, for example, a certain temperature profile which is more typical of Stills disease but you should think of this hypothesis in any patient with fever, arthritis and lymphadenopathy. Nuances that are really important should be part of your summarized description, anyway. While traveling through clinical exploration the physician must have split mind: one part is interacting and keeping the empathy with the patient, the other is checking the map, the quality and relevance of signs and what direction the journey is taking.

THE ROLE OF LABORATORY TESTS IN RHEUMATOLOGY

Laboratory tests have limited utility in the diagnosis of most rheumatic conditions. Their influence varies according to the clinical scenario and they should, obviously, be chosen to clarify clinically supported hypothesis. Ordering a battery of laboratory tests will more frequently introduce falsepositive information, noise and cost than clarify the diagnosis. The ability of a test to classify individuals correctly as having or not having a given disease depends on sensitivity and specificity. Sensitivity is the proportion of true positives (i.e., true patients) that are correctly identified as such and is, therefore, equal to 1 minus the false negative rate. Specificity is the proportion of true negatives (i.e. no-patients) that are correctly identified as such and is, therefore, equal to 1 minus the false positive rate. Specificity is profoundly affected by the population used to establish it, i.e., the number and medical conditions of the control population. For example, rheumatoid factor prevalence in the general healthy population increases with age and is associated with a variety of non-rheumatic conditions (such as endocarditis and tuberculosis) and rheumatic diseases such as Sjgrens syndrome and lupus. The calculated specificity in any given study will be increased by exclusion of the confounding conditions from the control group and decreased by the inclusion of older people or patients with SLE. Ideally we would have accurate numbers reflecting the clinical context of each individual patient but that is, obviously, impossible. Taken lightly, sensitivity and specificity can be easily overvalued in practice. The clinician needs to consider the limitations of these numbers. Let us consider, for example, ANA antibodies and the diagnosis of systemic lupus. It is certainly remarkable that ANA antibodies can be found in 95% of patients with systemic lupus. A negative ANA test certainly makes the diagnosis of SLE very unlikely. A positive test supports the diagnosis but the impact will depend on the clinical scenario. Positive ANA is also found in about 5% of the general population. However, SLE is a rare disease, affecting approximately 1 in 2000 of the population. This makes SLE a relatively rare cause of positive ANA. Admitting that all people with musculoskeletal symptoms were blindly screened with ANA (approximately 20% of the total population), 100 in 2000 of the population would be found to have ANA while only one would have actual SLE. Most people with positive ANA test do not have SLE or actually any other rheumatic condition. Similar limitations, obviously, apply to other tests. Adequate weighing of sensitivity and specificity can be helped by stating to oneself the complementary message: rheumatoid factor is present in 80% of patients with rheumatoid arthritis (sensitivity) therefore 20% of patients with rheumatoid arthritis do not have rheumatoid factor.
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Specificity of ANA for lupus in a given study was 92%, therefore 8% of those without the disease had positive ANA. The adequate impact of test results on the probability of the diagnosis is better supported by consideration of the pre-test probability and the likelihood ratio. These and other crucial aspects of weighing evidence and lab results are explored in more depth in another module of this course, dedicated to the critical appraisal of evidence.

KEY SUMMARY POINTS

Willing or not, all practicing clinicians follow strings of thought, maps of clinical reasoning: being aware of your own, revising and ensuring its accuracy will make a crucial contribution to your expertise and performance. Reflect on your practice, take lessons from your experiences and incorporate them into your mind map. Focus on the typical characteristics of each condition and on the crucial aspects that differentiate it from similar ones. Given great attention to sound indicators of prognosis, activity and progress. Never forget the absolutely decisive role of enquiry and examination in rheumatological diagnosis. Balance, as best you can, the need to guide your patient through the enquiry and his freedom to express his concerns. Always be critical about the clarity, validity, accuracy, sensitivity and specificity of clinical and laboratory data you use. Be aware of the importance of words as guides of thought: exercise the use of clinical descriptors that are as accurate and precise as possible. Make a problem representation in one sentence. Consider the mind map we offer in this chapter as a mere example, waiting to be adapted and continually revised by yourself, in search for the map that works best for you and your patients.

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