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, WikiSysop, Kim Jackson, Elaine Lonnemann and Oyemi Sillo  

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.

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. (Lakkrieddy)
  • 67% undergo invasive procedures for diagnosis and treatment
  • More than 50% end up with lifelong disabilities
  • Mostly occurs in children

Characteristics/Clinical Presentation[edit | edit source]

  • Pneumonia and right sided heart failure
  • Controversial malformations
  • Ossification of intercostal muscles
  • Kyphoscoliosis and lordosis
  • Severe weight loss
  • Torticollis
  • TMJ complications
  • 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[edit | edit source]

For acute flare-ups:

  • short term high does corticosteroids
  • NSAIDS
  • Biophosphonates


  • Radiotherapy 

Diagnostic Tests/Lab Tests/Lab Values[edit | edit source]

Blood samples

  • Indicate presense of heterozygous R206H mutation of the ACVR1 gene 

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
  • Restrictive pulmonary diseases


Nervous system

  • Middle ear ossifications
  • Hearing impairments 

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]

Myositis Ossificans
Heterotropic Ossificans
Juvenile Fibromatosis
Lymphoedema
Soft tissue sarcomas

Case Reports/ Case Studies[edit | edit source]

 1. 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.

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


3. Ulusoy H. Fibrodysplasia ossificans progressiva without characteristic skeletal anomalies. Rheumatol Int. 2012;32(5):1379-82.

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

Resources
[edit | edit source]

add appropriate resources here

Recent Related Research (from Pubmed)[edit | edit source]

see tutorial on Adding PubMed Feed

Extension:RSS -- Error: Not a valid URL: addfeedhere|charset=UTF-8|short|max=10

References[edit | edit source]

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.

Ulusoy H. Fibrodysplasia ossificans progressiva without characteristic skeletal anomalies. Rheumatol Int. 2012;32(5):1379-82.

Retrieved from "https://www.physio-pedia.com/index.php?title=Fibrodysplasia_Ossificans_Progressiva&oldid=136261"