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    Marfan Syndrome: Causes, Tests and Treatment Options
    Marfan Syndrome: Causes, Tests and Treatment Options
    Marfan Syndrome: Causes, Tests and Treatment Options
    Ebook81 pages54 minutes

    Marfan Syndrome: Causes, Tests and Treatment Options

    By Jennifer Laws

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    About this ebook

    Marfan syndrome, Marfan’s syndrome, or MFS, is a genetic disorder that affects connective tissue. Numerous organs might be affected in men and women with Marfan syndrome. The cardiovascular, skeletal, and ocular systems are usually affected, along with the lungs and skin. The specific symptoms and the severity of Marfan syndrome vary enormously from case to case. This concise book outlines the causes, tests and treatment options for this devastating disease.

    LanguageEnglish
    PublisherAndale LLC
    Release dateJan 13, 2012
    ISBN9781465772251
    Marfan Syndrome: Causes, Tests and Treatment Options

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      Book preview

      Marfan Syndrome - Jennifer Laws

      Marfan Syndrome: Causes, Tests and Treatment Options

      Jennifer Laws, MA

      Gary Brookfield, MD (Ed.)

      Smashwords Edition

      ****

      Copyright 2011 Jennifer Laws, MA Gary Brookfield, MD (Ed.)

      Smashwords Edition, License Notes

      This ebook is licensed for your personal enjoyment only. This ebook may not be re-sold or given away to other people. If you would like to share this book with another person, please purchase an additional copy for each recipient. If you’re reading this book and did not purchase it, or it was not purchased for your use only, then please purchase your own copy. Thank you for respecting the hard work of this author.

      Contents

      Introduction

      Symptoms

      Causes and Diagnosis

      Treatment

      Aneurysms

      Marfan Syndrome Related Organizations

      A Genetics Primer

      Glossary of Medical Terms

      Introduction

      Marfan syndrome, Marfan’s syndrome, or MFS, is a genetic disorder that affects connective tissue. Numerous organs might be affected in men and women with Marfan syndrome. The cardiovascular, skeletal, and ocular systems are usually affected, along with the lungs and skin. The specific symptoms and the severity of Marfan syndrome vary enormously from case to case.

      Marfan syndrome is a genetic disorder and is inherited as an autosomal dominant trait. Defects or mutations of the fibrillin-1 (FBN1) gene are linked to Marfan syndrome.

      Marfan syndrome affects males and females in equal ratio and occurs around the globe without having ethnic or geographic predisposition. The prevalence is estimated to be 1 in 3.000 to 5.000 individuals. Due to difficulties in diagnosing mild Marfan syndrome, the condition might be underdiagnosed, which makes it challenging to ascertain its correct frequency inside the typical population.

      The following disorders have symptoms which are often equivalent to these of Marfan syndrome. Comparisons are crucial to arrive at a suitable diagnosis:

      • Beals syndrome, or congenital contractural arachnodactyly

      • Ehlers-Danlos syndrome (EDS)

      • Mitral valve prolapse syndrome (MVP)

      • Homocystinuria

      • Loeys-Dietz syndrome

      • Familial aortic aneurysm

      Symptoms

      The specific signs or symptoms of Marfan syndrome range enormously from patient to patient. Some will have only a few moderate or isolated signs and symptoms; some others will experience far more severe issues. Many times, Marfan syndrome progresses by age. In some infants, Marfan syndrome might produce progressive complications during infancy, typically affecting several body organs early in life.

      Patients with Marfan syndrome frequently develop an abnormally skinny features and disproportionately extensive, slender legs and arms due to bone overgrowth. In addition, affected patients often have abnormally very long, slender fingers and tend to be tall and thin with an absence of muscle tone and very little subcutaneous fat.

      A variety of skeletal malformations affect men and women with Marfan syndrome which include:

      • abnormally deep hip socket with symptoms of erosion

      • abnormally flexible, loose or adaptable joints

      • pes planus (flat foot)

      • permanently bent fingers that don’t straighten fully

      • minimized elbow extension

      • rib overgrowth, resulting in pectus excavatum or pectus carinatum – a protrusion or indentation of the chest

      • restricted and stiff joints

      • mild to severe spinal abnormalities such as scoliosis

      Facial and ocular features that are hallmarks of the disorder include:

      • a long, narrow skull

      • deep-set eyes

      • abnormally tiny, recessed jaw

      • abnormally flat cheek bones

      • abnormal downward eye slant

      • highly-arched palate (roof of the mouth)

      • crowded teeth

      • misaligned teeth

      • myopia (nearsightedness)

      ectopia lentis (displacement of the lenses in the eyes)

      • abnormally flat cornea

      • hypoplastic iris (underdevelopment of the colored part of the eye)

      • retinal detachment

      • early occurrence of cataracts or glaucoma

      Patients with Marfan syndrome might have mitral valve prolapse, causing no symptoms at all or alternatively, chest pain, arrhythmias or congestive heart failure. Other heart abnormalities include:

      • aortic aneurysm (widening and degeneration of the primary artery that carries blood away from the heart to the body)

      • tearing of the aorta

      • aortic regurgitation (backwards flow of blood in the heart)

      Patients with Marfan syndrome may occasionally develop pneumothorax (collection of air inside the pleural space of the lungs), that may lead to a collapsed lung. Widening or bulging with the sac (dura) that surrounds the spinal cord, a condition called dural ectasia. Stretch marks (striae atrophicae) may be a problem on the skin. Sometimes, inguinal, or umbilical hernias may be present in the abdominal wall.

      MARFAN SYNDROME TYPE II

      People with MFS Type 2 might be in more risk for more widespread aneurysms through the arterial tree than people with classic Marfan syndrome. Because of this, patients diagnosed with Marfan syndrome type II need specialized management, which includes imaging protocols and counseling.

      Causes/

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