Fibrodysplasia Ossificans Progressiva: Difference between revisions
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== Differential Diagnosis<br> == | == Differential Diagnosis<br> == | ||
*''' | *'''Myositis Ossficians Progressiva''' | ||
*'''Juvenile Fibromatosis | |||
*'''Lymphoedema''' | *'''Lymphoedema''' | ||
'''Soft tissue sarcomas/neoplasms''''''-''' there are many doctors that misdiagnose FOP for neoplasms due to the recurrence of soft tissue flare-ups. | |||
== Case Reports/ Case Studies == | == Case Reports/ Case Studies == | ||
Revision as of 23:57, 22 March 2016
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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 was first described in 1692 and is characterized by progressive heterotropic ossification in anatomic structures. At first it was given the name Myositis Ossificans Progressiva which means "muscle that turns to bone." The name was later changed to Fibrodysplasia Ossificans Progressiva indicating "soft tissue that turns to bone." The name Fibrodysplasia Ossificans Progressiva embodies that ligaments and tendons also are turning to bone not just muscle which differentiates it from Myositis Ossificans Progressiva. This difference was discovered by Dr. Victor McKusick of Johns Hopkins University in the 1970's.
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
- Mostly begins in childhood.
- It has not been shown to be linked with any specific gender, ethnicity or race.
- There have been 800 confirmed cases in the world and 235 in the United States.
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 patterns described in some research. It is also possible that flare-ups can occur from trauma.
- 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 confined to a wheelchair by the second decade of life.
- More than 50% will experience lifelong diabilities.
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]
Physical therapy has been shown in some cases to make the condition worse in individuals with FOP because it tends to cause flare-ups with eventually leads to ossification of the ligaments, tendons and muscle.
Physical therapy can, however, be helpful in maintaining the following:
- 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 Ossficians Progressiva
- Juvenile Fibromatosis
- Lymphoedema
'Soft tissue sarcomas/neoplasms'- 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
[edit | edit source]
There is a support group offered to individuals diagnosed with this disorder called Internation Fibrodysplasia Ossificans Progressiva Association. It discusses the latest research, what it is like to live with FOP, and clinical trials. It was founded by Jeannie Peeper who has FOP. She wanted to end social isolation.
Recent Related Research (from <a href="http://www.ncbi.nlm.nih.gov/pubmed/">Pubmed</a>)[edit | edit source]
see tutorial on <a href="Adding PubMed Feed">Adding PubMed Feed</a>
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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.
- Mahboubi S, Glaser DL, Shore EM, Kaplan FS. Fibrodysplasia ossificans progressiva. Pediatr Radiol. 2001;31(5):307-14.
- 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.
