Fibrodysplasia Ossificans Progressiva: Difference between revisions
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== Characteristics/Clinical Presentation == | == Characteristics/Clinical Presentation == | ||
*'''''Congenital hallux valgus with microdactyly and monophalangeal great toe are early signs ''''' | *'''''Congenital hallux valgus with microdactyly and monophalangeal great toe are early signs ''''' | ||
* | *<span>Hearing impairments in approximately 50% of patients </span> | ||
*Pneumonia and right sided heart failure | *Pneumonia and right sided heart failure | ||
*Controversial malformations | *Controversial malformations |
Revision as of 02:29, 22 March 2016
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, Elaine Lonnemann, Oyemi Sillo, WikiSysop and Kim Jackson
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]
- 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
- 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.
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.
3. Ulusoy H. Fibrodysplasia ossificans progressiva without characteristic skeletal anomalies. Rheumatol Int. 2012;32(5):1379-82.
Resources
[edit | edit source]
add appropriate resources here
Recent Related Research (from Pubmed)[edit | edit source]
see tutorial on Adding PubMed Feed
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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.