Fibrodysplasia Ossificans Progressiva: Difference between revisions
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<div class="noeditbox">Welcome to [[Pathophysiology of Complex Patient Problems|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!!</div><div class="editorbox"> | | ||
<div class="noeditbox">Welcome to [[Pathophysiology of Complex Patient Problems|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!!</div><div class="editorbox"> | |||
'''Original Editors '''- [[Pathophysiology of Complex Patient Problems|Students from Bellarmine University's Pathophysiology of Complex Patient Problems project.]] | '''Original Editors '''- [[Pathophysiology of Complex Patient Problems|Students from Bellarmine University's Pathophysiology of Complex Patient Problems project.]] | ||
'''Top Contributors''' - {{Special:Contributors/{{FULLPAGENAME}}}} | '''Top Contributors''' - {{Special:Contributors/{{FULLPAGENAME}}}} | ||
</div> | </div> | ||
== Definition/Description == | == Definition/Description == | ||
Fibrodysplasia Ossificans Progressiva is a rare, genetic disorder than transforms ligaments, muscles and tendons into bone outside the skeleton that impairs movement. <br> | Fibrodysplasia Ossificans Progressiva is a rare, genetic disorder than transforms ligaments, muscles and tendons into bone outside the skeleton that impairs movement. <br> | ||
== Prevalence == | == Prevalence == | ||
*1 in every 2 million people are diagnosed with Fibrodysplasia Ossificans Porgressiva | *1 in every 2 million people are diagnosed with Fibrodysplasia Ossificans Porgressiva | ||
*Nearly 90% of the time it is misdiagnosed and mismanaged. (Lakkrieddy) | *Nearly 90% of the time it is misdiagnosed and mismanaged. (Lakkrieddy) | ||
*67% undergo invasive procedures for diagnosis and treatment | *67% undergo invasive procedures for diagnosis and treatment | ||
*More than 50% end up with lifelong disabilities | *More than 50% end up with lifelong disabilities | ||
*Mostly occurs in children<br> | *Mostly occurs in children<br> | ||
== Characteristics/Clinical Presentation == | == Characteristics/Clinical Presentation == | ||
*<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 | ||
| Line 31: | Line 30: | ||
*'''Acute flare-ups due to:''' | *'''Acute flare-ups due to:''' | ||
| •intramuscular immunizations<br> • mandibular blocks for dental work<br> • muscle fatigue<br> • blunt muscle trauma from bumps<br> • bruises<br> • falls<br> • influenza-like viral illnesses<br> | ||
== Medications == | == Medications == | ||
| Line 47: | Line 46: | ||
== Diagnostic Tests/Lab Tests/Lab Values == | == Diagnostic Tests/Lab Tests/Lab Values == | ||
'''Blood samples''' | '''Blood samples''' | ||
*Indicate presense of heterozygous R206H mutation of the ACVR1 gene <br> | *Indicate presense of heterozygous R206H mutation of the ACVR1 gene <br> | ||
| Line 53: | Line 52: | ||
== Etiology/Causes == | == Etiology/Causes == | ||
*Genetic R206H mutation of the ACVR1 gene | *Genetic R206H mutation of the ACVR1 gene | ||
*ACVR1 gene is a bone morphogenetic protein (BMP) type1 receptor signaling endochondral ossification | *ACVR1 gene is a bone morphogenetic protein (BMP) type1 receptor signaling endochondral ossification | ||
*R206H mutation leads to an increase in enhanced BMP signaling | *R206H mutation leads to an increase in enhanced BMP signaling | ||
*Confirmation of a heterozygous gene mutation of the ACVR1 gene<br><br> | *Confirmation of a heterozygous gene mutation of the ACVR1 gene<br><br> | ||
| Line 94: | Line 93: | ||
<br> | <br> | ||
<u>'''Ultimately, there is not much that can be done to cure this disease.'''</u><br><br> | <u>'''Ultimately, there is not much that can be done to cure this disease.'''</u><br><br> | ||
== Physical Therapy Management (current best evidence) == | == Physical Therapy Management (current best evidence) == | ||
*Maintain ROM in the affected joints | *Maintain ROM in the affected joints | ||
*Enhance the ease of ADL’s | *Enhance the ease of ADL’s | ||
*Make their functional activities as easy as possible | *Make their functional activities as easy as possible | ||
*Taping | *Taping | ||
*Stretching | *Stretching | ||
*Positioning | *Positioning | ||
*Education to relieve contractures | *Education to relieve contractures | ||
== Differential Diagnosis == | == Differential Diagnosis == | ||
Myositis Ossificans<br>Heterotropic Ossificans <br>Juvenile Fibromatosis <br>Lymphoedema <br>Soft tissue sarcomas<br> | Myositis Ossificans<br>Heterotropic Ossificans <br>Juvenile Fibromatosis <br>Lymphoedema <br>Soft tissue sarcomas<br> | ||
== Case Reports/ Case Studies == | == Case Reports/ Case Studies == | ||
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. | 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 | http://eds.b.ebscohost.com.libproxy.bellarmine.edu/ehost/pdfviewer/pdfviewer?sid=9edb8546-3494-4276-9379-f01cedb2286c%40sessionmgr114&vid=12&hid=114 | ||
<br>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.<br> | <br>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.<br> | ||
http://eds.a.ebscohost.com.libproxy.bellarmine.edu/ehost/pdfviewer/pdfviewer?sid=b5a8ae2d-427e-4b53-8193-5f7b0dca250a%40sessionmgr4005&vid=9&hid=4203 | http://eds.a.ebscohost.com.libproxy.bellarmine.edu/ehost/pdfviewer/pdfviewer?sid=b5a8ae2d-427e-4b53-8193-5f7b0dca250a%40sessionmgr4005&vid=9&hid=4203 | ||
<br> | |||
3. Ulusoy H. Fibrodysplasia ossificans progressiva without characteristic skeletal anomalies. Rheumatol Int. 2012;32(5):1379-82.<br> | |||
http://search.proquest.com.libproxy.bellarmine.edu/docview/1013442999/EF79DA28CC94937PQ/2?accountid=6741 | |||
== Resources <br> == | |||
== Resources <br> == | |||
add appropriate resources here | add appropriate resources here | ||
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<div class="researchbox"> | <div class="researchbox"> | ||
<rss>addfeedhere|charset=UTF-8|short|max=10</rss> | <rss>addfeedhere|charset=UTF-8|short|max=10</rss> | ||
</div> | </div> | ||
== References == | == References == | ||
Kaplan FS, Le merrer M, Glaser DL, et al. Fibrodysplasia ossificans progressiva. Best Pract Res Clin Rheumatol. 2008;22(1):191-205. | 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.<br> | 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.<br> | ||
Ulusoy H. Fibrodysplasia ossificans progressiva without characteristic skeletal anomalies. Rheumatol Int. 2012;32(5):1379-82. | Ulusoy H. Fibrodysplasia ossificans progressiva without characteristic skeletal anomalies. Rheumatol Int. 2012;32(5):1379-82. | ||
Revision as of 02:22, 22 March 2016
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, 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]
- 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
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.
