Fibrodysplasia Ossificans Progressiva

 

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Definition/Description

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.

Prevalence

• 1 in every 2 million people are diagnosed with Fibrodysplasia Ossificans Porgressiva
• Nearly 90% of the time it is misdiagnosed and mismanaged. (Lakkrieddy)
• 67% undergo invasive procedures for diagnosis and treatment
• More than 50% end up with lifelong disabilities
• Mostly occurs in children
  

Characteristics/Clinical Presentation

• 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

Medications

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

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

• 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

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)

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)

• 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

Myositis Ossificans
Heterotropic Ossificans
Juvenile Fibromatosis
Lymphoedema
Soft tissue sarcomas

Case Reports/ Case Studies

4 year old boy with FOP 

Clinical and Genetic Analysis of Fibrodysplasia Ossificans Progressiva: A Case Report and Literature Review

http://eds.b.ebscohost.com.libproxy.bellarmine.edu/ehost/pdfviewer/pdfviewer?sid=9edb8546-3494-4276-9379-f01cedb2286c%40sessionmgr114&vid=12&hid=114

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.

http://eds.a.ebscohost.com.libproxy.bellarmine.edu/ehost/pdfviewer/pdfviewer?sid=b5a8ae2d-427e-4b53-8193-5f7b0dca250a%40sessionmgr4005&vid=9&hid=4203

29 year old man with onset of sypmtoms at age 9

Fibrodysplasia ossificans progressiva without characteristic Skeletal anomalies

http://search.proquest.com.libproxy.bellarmine.edu/docview/1013442999/EF79DA28CC94937PQ/2?accountid=6741

Resources

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Recent Related Research (from <a href="http://www.ncbi.nlm.nih.gov/pubmed/">Pubmed</a>)

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References

1. Kaplan FS, Le merrer M, Glaser DL, et al. Fibrodysplasia ossificans progressiva. Best Pract Res Clin Rheumatol. 2008;22(1):191-205.
2. 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.
   
3. Pignolo RJ, Shore EM, Kaplan FS. Fibrodysplasia ossificans progressiva: diagnosis, management, and therapeutic horizons. Pediatr Endocrinol Rev. 2013;10 Suppl 2:437-48.
   
4. Ulusoy H. Fibrodysplasia ossificans progressiva without characteristic skeletal anomalies. Rheumatol Int. 2012;32(5):1379-82.