Fibrodysplasia Ossificans Progressiva

 

Welcome to PT 635 Pathophysiology of Complex Patient Problems This is a wiki created by and for the students in the School of Physical Therapy at Bellarmine University in Louisville KY. Please do not edit unless you are involved in this project, but please come back in the near future to check out new information!!

Original Editors - Students from Bellarmine University's Pathophysiology of Complex Patient Problems project.

Top Contributors - Krista Polanin, Carly McArtor, Clinton Morris, 127.0.0.1, Kim Jackson, Elaine Lonnemann, Oyemi Sillo and WikiSysop  

Definition/Description

Fibrodysplasia Ossificans Progressiva is a rare, genetic disorder than transforms ligaments, muscles and tendons into bone outside the skeleton that impairs movement.

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

• 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
  

Medications

For acute flare-ups:

• short term high does corticosteroids
• NSAIDS
• Biophosphonates

• Radiotherapy 
  
  

Diagnostic Tests/Lab Tests/Lab Values

Blood samples

• Indicate presense of heterozygous R206H mutation of the ACVR1 gene 
  

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
• Restrictive pulmonary diseases

Nervous system

• Middle ear ossifications
• Hearing impairments 

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)

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Differential Diagnosis

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Case Reports/ Case Studies

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Resources

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Recent Related Research (from Pubmed)

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References

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