Fibrodysplasia Ossificans Progressiva
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Definition/Description[edit | edit source]
Fibrodysplasia Ossificans Progressiva is a rare, genetic disorder than transforms ligaments, muscles and tendons into bone outside the skeleton that impairs movement. It is characterized by progressive heterotropic ossification in anatomic structures. It is also referred to myositis ossificans.
Prevalence[edit | edit source]
- 1 in every 2 million people are diagnosed with Fibrodysplasia Ossificans Porgressiva
- Nearly 90% of the time it is misdiagnosed and mismanaged.
- 67% undergo invasive procedures for diagnosis and treatment
- More than 50% end up with lifelong disabilities
- Mostly occurs in children
- It has not been shown to be linked with any specific gender, ethnicity or race.
Characteristics/Clinical Presentation[edit | edit source]
- Congenital hallux valgus with microdactyly and monophalangeal great toe are early signs
- Hearing impairments in approximately 50% of patients
- Pneumonia and right sided heart failure
- Controversial malformations
- Ossification of intercostal muscles
- Kyphoscoliosis and lordosis
- Severe weight loss
- Torticollis
- TMJ complications
Flare-ups are usually sporadic and unpredictable. It is impossible to predict duration and severity of the flare-ups even though there has been some characteritic patterning described in some research.
- Acute flare-ups due to: intramuscular immunizations, mandibular blocks for dental work, muscle fatigue, blunt muscle trauma from bumps, bruises, falls, influenza-like viral illnesses
Prognosis
[edit | edit source]
- The average lifespan of these patients is approximately 40 years. Death is usually caused by respiratory infections.
- Most individuals with FOP are wheelchair bound by the second decade of life.
Medications[edit | edit source]
For acute flare-ups:
- short term high does corticosteroids
- NSAIDS
- Biophosphonates
- Radiotherapy
For chronic discomfort and ongoing flare-ups:
- Cyclo-oxygenase-2 inhibitors
- Leukotreine inhibitors
- Mast Cell Stabilizers
Diagnostic Tests/Lab Tests/Lab Values[edit | edit source]
Blood Samples
- Positive for heterozygous R206H mutation of the ACVR1 gene.
Computed Tomography
Magnetic Resonance Imaging
Bone Scans
ESR elevated during acute flare-ups
Etiology/Causes[edit | edit source]
- Genetic R206H mutation of the ACVR1 gene
- ACVR1 gene is a bone morphogenetic protein (BMP) type1 receptor signaling endochondral ossification
- R206H mutation leads to an increase in enhanced BMP signaling
- Confirmation of a heterozygous gene mutation of the ACVR1 gene
Systemic Involvement[edit | edit source]
Cardiopulmonary system
- Lungs affected caused by thoracic insufficiencies (i.e. decreased chest wall expansion)
- Restrictive pulmonary diseases
Nervous system
- Middle ear ossifications
- Hearing impairments
Immune system
- Flare-ups following viral infections can occur
- Inflammation
Renal system
- Individuals with FOP are 2 times more likely to get kidney stones
Medical Management (current best evidence)[edit | edit source]
Medications
- Reduces the pain and severity of flare-ups
Surgical release of joint contractures
- Usually unsuccessful
Osteotomy of heterotropic bone
- Mobilizes joints
- Usually counterproductive because new heterotrophic ossificans can form at the site
Repositioned surgically
- Improves the patients overall functional status
- Rare
Ultimately, there is not much that can be done to cure this disease.
Physical Therapy Management (current best evidence)[edit | edit source]
- Maintain ROM in the affected joints
- Enhance the ease of ADL’s
- Make their functional activities as easy as possible
- Taping
- Stretching
- Positioning
- Education to relieve contractures
Differential Diagnosis
[edit | edit source]
- Juvenile Fibromatosis
- Lymphoedema
- 'Soft tissue sarcomas/neoplasm's- there are many doctors that misdiagnose FOP for neoplasms due to the recurrence of soft tissue flare-ups.
Case Reports/ Case Studies[edit | edit source]
4 year old boy with FOP
Clinical and Genetic Analysis of Fibrodysplasia Ossificans Progressiva: A Case Report and Literature Review
20 year follow-up of a 23 year old female
A case of fibrodysplasia ossificans progressiva: 20 years of follow‑up
2. Rogoveanu O, Traistaru R, Streba CT, Stoica Z, Popescu R. Clinical, evolution and therapeutical considerations upon a case of fibrodysplasia ossificans progressiva (FOP). J Med Life. 2013;6(4):454-8.
29 year old man with onset of sypmtoms at age 9
Fibrodysplasia ossificans progressiva without characteristic Skeletal anomalies
Resources
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add appropriate resources here
Recent Related Research (from <a href="http://www.ncbi.nlm.nih.gov/pubmed/">Pubmed</a>)[edit | edit source]
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References[edit | edit source]
- Abhishek K, Jain S, Khadgawat R. A case of fibrodysplasia ossificans progressiva: 20 years of follow-up. Neurology India [serial online]. March 2016;64(2):354-356. Available from: Academic Search Complete, Ipswich, MA. Accessed March 22, 2016.
- Kaplan FS, Le merrer M, Glaser DL, et al. Fibrodysplasia ossificans progressiva. Best Pract Res Clin Rheumatol. 2008;22(1):191-205.
- Lakkireddy M, Chilakamarri V, Ranganath P, Arora A, Vanaja M. Clinical and Genetic Analysis of Fibrodysplasia Ossificans Progressiva: A Case Report and Literature Review. Journal Of Clinical & Diagnostic Research [serial online]. August 2015;9(8):1-3. Available from: Academic Search Complete, Ipswich, MA. Accessed March 19, 2016.
- Pignolo RJ, Shore EM, Kaplan FS. Fibrodysplasia ossificans progressiva: diagnosis, management, and therapeutic horizons. Pediatr Endocrinol Rev. 2013;10 Suppl 2:437-48.
- Ulusoy H. Fibrodysplasia ossificans progressiva without characteristic skeletal anomalies. Rheumatol Int. 2012;32(5):1379-82.
