Description

Osteogenesis imperfecta now have additional genes that cause brittle bones and is slowly spreading
across generations and countries.

 Osteogenesis imperfecta is a disorder of bone fragility chiefly caused by mutations is the

COL1A1 and COL1A2 that encode type I procollagen.

 It is also known as brittle bone disease, Lobstein syndrome, fragilitas ossium, Vrolik disease.

 Osteogenesis imperfecta is characterized by bones that break easily often from little or no
apparent cause.

 Precise typing of osteogenesis imperfecta is often difficult and depends in large degree on the
experience of the clinician.

 Severity ranges from mild forms to lethal forms in the perinatal period.

Classification

Forlino and Marini in 2015 offered an alternate way of understanding the genetics of osteogenesis
imperfecta by sorting into five functional categories as follows:

 Group A. These are the primary defects in collagen structure and function.

 Group B. These are the collagen modification defects.

 Group C. These are the collagen folding and crosslinking defects.

 Group D. This group includes ossification or mineralization defects.

 Group E. The group includes osteoblast development defects with collagen insufficiency.

Pathophysiology

The classification system is not integrated into widespread use but offers significant streamlining of
categories into intellectually satisfying divisions.
  COL1A1/COL1A2. Type 1 collagen, which constitutes approximately 30% of the human body
weight is defective in osteogenesis imperfecta.

 Calcification of the intraosseous membranes. Patients with this form of osteogenesis

imperfecta generally have moderate severity disease but frequently develop hyperplastic
calluses in long bones after having a fracture or orthopedic surgerywhich involved
osteotomies.

 SERPINFI (Type VI). This is caused by homozygous mutation in SERPINF1 gene, and
inheritance is autosomal recessive.

 CRTAP/LEPTE1/PPIB (Type VII-IX). Cartilage-associated protein (CRTAP) is a protein

required for prolyl-3-hydroxylation and with the protein products of the LEPRE1 and PPIB
genes, forms a heterotrimeric protein that is crucial for proper post-translational
modification of collagen I.

 SERPINH1 (Type X). Genetic testing found a previously described homozygous mutation in
the SERPINH1 gene.

 FKBP10 (Type XI). This is caused by a homozygous mutation in the FKBP10 gene and is
inherited in an autosomal recessive manner.

 SP7 (Type XII). There are homozygous deletions in the SP7 gene and is inherited in
autosomal recessive fashion.

 BMP1 (Type XIII). This is caused by homozygous mutation in the BMP1 gene and is
inherited in an autosomal recessive manner.

 WNT1 (Type XV). This form is caused by homozygous or compound heterozygous mutations
in the WNT1 gene and is inherited in an autosomal recessive manner.

 CREB3L1 (Type XVI). CREB3L1 encodes the endoplasmic reticulum stress transducer protein
OASIS which regulates the expression of type 1 procollagen.

 SPARC (Type XVII). SPARC or secreted protein, acidic, cysteine-rich is a glycoprotein that
binds to multiple matrix protein, including collagen I.

Statistics and Incidences

Osteogenesis imperfecta now affect people from different countries around the world.
  In the United States, the prevalence of osteogenesis imperfecta is estimated to be 2 for
every 15, 000 live births. However, the mild form is underdiagnosed.

 Prevalence appears to be the same worldwide, although there may be an increased risk of
recessive forms of osteogenesis imperfecta in populations with high degrees of
consanguinity.

 There are no differences based on sex that is reported.

 There are no differences based on race reported.

 The age when symptoms begin widely varies, as there are patients who do not have fractures
until adulthood, while others may present with fractures during infancy.

Causes

Osteogenesis imperfecta is an inherited disorder.

 Mode of inheritance. In types I to V osteogenesis imperfecta, the mode of inheritance is

autosomal dominant and often involves a new dominant mutation.

 Germ cell mosaicism. Germ cell mosaicism may be the explanation for cases occurring in
families with healthy parents that have more than one child with osteogenesis imperfecta.

 Somatic mosaicism. Somatic mosaicism has been noted in brainstem who have had multiple
children with the same dominant form.

Clinical Manifestations

The clinical manifestations of osteogenesis imperfecta varies according to classification.

 Bluish to whitish sclera. The hues of the sclera may vary, but the change in color can also
occur in other diseases such as progeria and Menkes syndrome.

 Dentinogenesis imperfecta. The teeth break easily and erode gradually.

 Fractures. Over a lifetime numbers of fractures may reach a hundred or even more.

 High pain tolerance. People with osteogenesis imperfecta may have a high tolerance
for pain, as old fractures may be discovered in infants only after a radiograph ordered for
an entirely different reason.
  Height. Height is extremely variable with some patients having near-normal height and others
having significantly short stature.

Complications

Complications of a patient with osteogenesis imperfecta include:

 Respiratory infections. Repeated respiratory infections can be a complication of severe

osteogenesis imperfecta.

 Basilar impression. Basilar impression can cause brainstem compression and is a major
neurologic complication in children with osteogenesis imperfecta.

 Hydrocephalus. Hydrocephalus can be communicating or non-communicating and sometimes

requires CSF shunting.

 Cerebral hemorrhage. Cerebral hemorrhage caused by birth trauma is another possible

complication.

Assessment and Diagnostic Findings

Results of diagnostic tests on people with osteogenesis imperfecta are useful in ruling out other
metabolic bone diseases.

 Collagen synthesis analysis. Collagen synthesis analysis is performed by culturing dermal

fibroblasts obtained during skin biopsy.

 Prenatal DNA mutation analysis. Prenatal DNA mutation analysis can be performed in
pregnancies with the risk of osteogenesis imperfecta to analyze uncultured chorionic villus
cells.

 Bone mineral density. Bone mineral density, as measured with dual-energy radiographic
absorptiometry, is generally low in children and adults with osteogenesis imperfecta.

 X-ray. Images may reveal thinning of the long bones with thin cortices or it may reveal
beaded ribs, broad bones and numerous fractures with deformities of the long bones.

 Ultrasonography. Prenatal ultrasonography can be used to detect limb-length abnormalities

at 15 to 18 weeks gestation.
Medical Management

Because osteogenesis imperfecta is a genetic condition; it has no cure.

 Nutrition. Nutritional evaluation and condition are paramount to ensure appropriate intake
of calcium and vitamin D.

 In utero bone marrow transplant. In utero bone marrow transplantation of adult bone
marrow has been shown to decrease perinatal lethality.

 RANKL inhibition. A preclinical study demonstrated that RANKL inhibition improves density
and some geometric and biomechanical properties of oim/oim mouse bone but does not
decrease fracture incidence when compared with placebo.

Pharmacologic Therapy

Drugs administered to patients with osteogenesis imperfecta include the following:

 IV Pamidronate. Cyclic administration of intravenous pamidronate reduces the incidence

of fracture and increases bone mineral density while reducing pain levels and increasing
energy levels.

 Risedronate. Oral bisphosphonates such as risedronate may have some effect in reducing
fractures in patients with osteogenesis imperfecta.

Surgical Management

Orthopedic surgery is one of the pillars of treatment for patients with osteogenesis imperfecta.

 Intramedullary rod replacement. In patients with bowed long bones, intramedullary rod
replacement may improve weight bearing and, thus, enable the child to walk at an earlier
stage than he or she might otherwise.

 Surgery for basilar impression. This procedure is reserved for cases with neurologic
deficiencies, especially those caused by compression of brain stem.

 Correction of scoliosis. Correction of scoliosis may be difficult because of bone fragility, but
spinal fusion injury may be beneficial in patients with severe disease.
Nursing Management

Care of patients with osteogenesis imperfecta is multidisciplinary.

Nursing Assessment

The nurse should assess the following in a patient with osteogenesis imperfecta:

 History. Assess the patient’s medical history as osteogenesis imperfecta is a genetic disorder.

 Physical assessment. Fracture is a common occurrence in a patient with osteogenesis

imperfecta and symptoms can be detected in a physical exam.

 Laboratory values. Laboratory results may reveal the occurrence of osteogenesis imperfecta.

Nursing Diagnosis

Based on the assessment data, the major nursing diagnosis are:

 Risk for injury related to fragile bones.

 Impaired dentition related to genetic predisposition.

 Impaired physical mobility related to loss of integrity of bone structures.

Nursing Care Planning & Goals

Main Article: 8 Fracture Nursing Care Plans

The major goals for the patient with osteogenesis imperfecta include:

 Modify environment as indicated to enhance safety.

 Be free of injury.

 Display healthy teeth in good repair.

 Verbalize and demonstrate effective dental hygiene skills.

 Follow through on referrals for appropriate dental care.

 Increase strength and function pf affected and/or compensatory body part.

Nursing Interventions

The nurse is responsible for the following:

 Genetic counseling. Offer genetic counseling to the parents of a child with osteogenesis
imperfecta so that germline mosaicism may be discussed, as this is the mechanism
responsible for some patients with the apparent new dominant mutation.

 Diet. Encourage adequate calcium, vitamin D, and phosphorus intake, and ensure appropriate
caloric management.

 Activity. Educate parents regarding positioning of the child in the crib and how to handle the
child while avoiding fractures.

Evaluation

Expected patient outcomes include:

 Modified environment as indicated to enhance safety.

 Free of injury.

 Displayed healthy teeth in good repair.

 Verbalized and demonstrated effective dental hygiene skills.

 Followed through on referrals for appropriate dental care.

 Increased strength and function of affected and/or compensatory body part.

Discharge and Home Care Guidelines

Discharge instructions for the patient and the family include:

 Physical therapy. Therapy should be directed toward improving joint mobility and
developing muscle strength.

 Nutrition. Periodic nutritional evaluation and intervention should be implemented.

 Oral health. Patients with osteogenesis imperfecta require scrupulous oral hygiene and
frequent follow up with a pediatric dentist who is familiar with the disorder.

Documentation Guidelines
The focus of documentation should include:

 Individual risk factors, noting current physical findings.

 Availability and use of resources.

 Individual factors influencing dentition problems.

 Description of oral cavity and structures.

 Level of function, ability to participate in specific or desired activities.

 Plan of care.

 Teaching plan.

 Individual responses to interventions, teaching, and actions performed.

 Attainment or progress toward desired outcomes.

 Modifications to plan of care.