Fibrodysplasia Ossificans Progressiva: Difference between revisions

No edit summary
No edit summary
Line 1: Line 1:
 
<p>&nbsp;
<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">
</p>
'''Original Editors '''- [[Pathophysiology of Complex Patient Problems|Students from Bellarmine University's&nbsp;Pathophysiology of Complex Patient Problems project.]]
<div class="noeditbox">Welcome to <a href="Pathophysiology of Complex Patient Problems">PT 635 Pathophysiology of Complex Patient Problems</a> 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">
 
<p><b>Original Editors </b>- <a href="Pathophysiology of Complex Patient Problems">Students from Bellarmine University's&nbsp;Pathophysiology of Complex Patient Problems project.</a>
'''Top Contributors''' - {{Special:Contributors/{{FULLPAGENAME}}}} &nbsp;  
</p><p><b>Top Contributors</b> - <span class="fck_mw_template">{{Special:Contributors/{{FULLPAGENAME}}}}</span> &nbsp;  
</p>
</div>  
</div>  
== Definition/Description  ==
<h2> Definition/Description  </h2>
 
<p>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>  
</p>
 
<h2> Prevalence  </h2>
== Prevalence  ==
<ul><li>1 in every 2 million people are diagnosed with Fibrodysplasia Ossificans Porgressiva  
 
</li><li>Nearly 90% of the time it is misdiagnosed and mismanaged. (Lakkrieddy)  
*1 in every 2 million people are diagnosed with Fibrodysplasia Ossificans Porgressiva  
</li><li>67% undergo invasive procedures for diagnosis and treatment  
*Nearly 90% of the time it is misdiagnosed and mismanaged. (Lakkrieddy)  
</li><li>More than 50% end up with lifelong disabilities  
*67% undergo invasive procedures for diagnosis and treatment  
</li><li>Mostly occurs in children<br />
*More than 50% end up with lifelong disabilities  
</li></ul>
*Mostly occurs in children<br>
<h2> Characteristics/Clinical Presentation  </h2>
 
<ul><li><i><b>Congenital hallux valgus with microdactyly and monophalangeal great toe are early signs&nbsp;</b></i>
== Characteristics/Clinical Presentation  ==
</li><li><span>Hearing impairments in approximately 50% of patients &nbsp; &nbsp;&nbsp;</span>  
 
</li><li>Pneumonia and right sided heart failure  
*'''''Congenital hallux valgus with microdactyly and monophalangeal great toe are early signs&nbsp;'''''
</li><li>Controversial malformations  
*<span>Hearing impairments in approximately 50% of patients &nbsp; &nbsp;&nbsp;</span>  
</li><li>Ossification of intercostal muscles  
*Pneumonia and right sided heart failure  
</li><li>Kyphoscoliosis and lordosis  
*Controversial malformations  
</li><li>Severe weight loss  
*Ossification of intercostal muscles  
</li><li>Torticollis  
*Kyphoscoliosis and lordosis  
</li><li>TMJ complications<br />  
*Severe weight loss  
</li><li><b>Acute flare-ups due to:</b> intramuscular immunizations, mandibular blocks for dental work, muscle fatigue, blunt muscle trauma from bumps, bruises, falls, influenza-like viral illnesses
*Torticollis  
</li></ul>
*TMJ complications<br>  
<p><br />
*'''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
</p>
 
<h2> Medications  </h2>
<br>
<p><i><b>For acute flare-ups:</b></i>
 
</p>
== Medications  ==
<ul><li>short term high does corticosteroids  
 
</li><li>NSAIDS  
'''''For acute flare-ups:'''''
</li><li>Biophosphonates<br />
 
</li></ul>
*short term high does corticosteroids  
<ul><li>Radiotherapy&nbsp;<br /><br />
*NSAIDS  
</li></ul>
*Biophosphonates<br>
<h2> Diagnostic Tests/Lab Tests/Lab Values  </h2>
 
<p><b>Blood Samples</b>
*Radiotherapy&nbsp;<br><br>
</p>
 
<ul><li>
== Diagnostic Tests/Lab Tests/Lab Values  ==
</li></ul>
 
<p><b>Computed Tomography</b>
'''Blood Samples'''
</p><p><b>Magnetic Resonance Imaging</b>
 
</p><p><b>Bone Scans</b>
*
</p>
 
<h2> Etiology/Causes  </h2>
'''Computed Tomography'''
<ul><li>Genetic R206H mutation of the ACVR1 gene  
 
</li><li>ACVR1 gene is a bone morphogenetic protein (BMP) type1 receptor signaling endochondral ossification  
'''Magnetic Resonance Imaging'''
</li><li>R206H mutation leads to an increase in enhanced BMP signaling  
 
</li><li>Confirmation of a heterozygous gene mutation of the ACVR1 gene<br /><br />
'''Bone Scans'''
</li></ul>
 
<h2> Systemic Involvement  </h2>
== Etiology/Causes  ==
<p><b><u>Cardiopulmonary system</u></b>
 
</p>
*Genetic R206H mutation of the ACVR1 gene  
<ul><li>Lungs affected caused by thoracic insufficiencies  
*ACVR1 gene is a bone morphogenetic protein (BMP) type1 receptor signaling endochondral ossification  
</li><li>Restrictive pulmonary diseases
*R206H mutation leads to an increase in enhanced BMP signaling  
</li></ul>
*Confirmation of a heterozygous gene mutation of the ACVR1 gene<br><br>
<p><br />  
 
</p><p><b><u>Nervous system</u></b>
== Systemic Involvement  ==
</p>
 
<ul><li>Middle ear ossifications  
'''<u>Cardiopulmonary system</u>'''
</li><li>Hearing impairments&nbsp;
 
</li></ul>
*Lungs affected caused by thoracic insufficiencies  
<h2> Medical Management (current best evidence)  </h2>
*Restrictive pulmonary diseases
<p><i><b>Medications&nbsp;</b></i>
 
</p>
<br>  
<ul><li>Reduces the pain and severity of flare-ups<br />
 
</li></ul>
'''<u>Nervous system</u>'''
<p><i><b>Surgical release of joint contractures</b></i>
 
</p>
*Middle ear ossifications  
<ul><li>Usually unsuccessful<br />
*Hearing impairments&nbsp;
</li></ul>
 
<p><i><b>Osteotomy of heterotropic bone</b></i>
== Medical Management (current best evidence)  ==
</p>
 
<ul><li>Mobilizes joints  
'''''Medications&nbsp;'''''
</li><li>Usually counterproductive because new heterotrophic ossificans can form at the site<br />
 
</li></ul>
*Reduces the pain and severity of flare-ups<br>
<p><i><b>Repositioned surgically</b></i>
 
</p>
'''''Surgical release of joint contractures'''''
<ul><li>Improves the patients overall functional status  
 
</li><li>Rare
*Usually unsuccessful<br>
</li></ul>
 
<p><br />  
'''''Osteotomy of heterotropic bone'''''
</p><p><u><b>Ultimately, there is not much that can be done to cure this disease.</b></u><br /><br />  
 
</p>
*Mobilizes joints  
<h2> Physical Therapy Management (current best evidence)  </h2>
*Usually counterproductive because new heterotrophic ossificans can form at the site<br>
<ul><li>Maintain ROM in the affected joints  
 
</li><li>Enhance the ease of ADL’s  
'''''Repositioned surgically'''''
</li><li>Make their functional activities as easy as possible  
 
</li><li>Taping  
*Improves the patients overall functional status  
</li><li>Stretching  
*Rare
</li><li>Positioning  
 
</li><li>Education to relieve contractures
<br>  
</li></ul>
 
<h2> Differential Diagnosis  </h2>
<u>'''Ultimately, there is not much that can be done to cure this disease.'''</u><br><br>  
<p>Myositis Ossificans<br />Heterotropic Ossificans <br />Juvenile Fibromatosis <br />Lymphoedema <br />Soft tissue sarcomas<br />  
 
</p>
== Physical Therapy Management (current best evidence)  ==
<h2> Case Reports/ Case Studies  </h2>
 
<p>&nbsp;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 &amp; Diagnostic Research [serial online]. August 2015;9(8):1-3. Available from: Academic Search Complete, Ipswich, MA.  
*Maintain ROM in the affected joints  
</p><p>http://eds.b.ebscohost.com.libproxy.bellarmine.edu/ehost/pdfviewer/pdfviewer?sid=9edb8546-3494-4276-9379-f01cedb2286c%40sessionmgr114&amp;vid=12&amp;hid=114  
*Enhance the ease of ADL’s  
</p><p><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 />  
*Make their functional activities as easy as possible  
</p><p>http://eds.a.ebscohost.com.libproxy.bellarmine.edu/ehost/pdfviewer/pdfviewer?sid=b5a8ae2d-427e-4b53-8193-5f7b0dca250a%40sessionmgr4005&amp;vid=9&amp;hid=4203  
*Taping  
</p><p><br />  
*Stretching  
</p><p>3. Ulusoy H. Fibrodysplasia ossificans progressiva without characteristic skeletal anomalies. Rheumatol Int. 2012;32(5):1379-82.<br />  
*Positioning  
</p><p>http://search.proquest.com.libproxy.bellarmine.edu/docview/1013442999/EF79DA28CC94937PQ/2?accountid=6741  
*Education to relieve contractures
</p>
 
<h2> Resources <br />  </h2>
== Differential Diagnosis  ==
<p>add appropriate resources here  
 
</p>
Myositis Ossificans<br>Heterotropic Ossificans <br>Juvenile Fibromatosis <br>Lymphoedema <br>Soft tissue sarcomas<br>  
<h2> Recent Related Research (from <a href="http://www.ncbi.nlm.nih.gov/pubmed/">Pubmed</a>)  </h2>
 
<p>see tutorial on <a href="Adding PubMed Feed">Adding PubMed Feed</a>
== Case Reports/ Case Studies  ==
</p>
 
&nbsp;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 &amp; 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&amp;vid=12&amp;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>  
 
http://eds.a.ebscohost.com.libproxy.bellarmine.edu/ehost/pdfviewer/pdfviewer?sid=b5a8ae2d-427e-4b53-8193-5f7b0dca250a%40sessionmgr4005&amp;vid=9&amp;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>  ==
 
add appropriate resources here  
 
== Recent Related Research (from [http://www.ncbi.nlm.nih.gov/pubmed/ Pubmed])  ==
 
see tutorial on [[Adding PubMed Feed|Adding PubMed Feed]]
<div class="researchbox">
<div class="researchbox">
<rss>addfeedhere|charset=UTF-8|short|max=10</rss>  
<p><span class="fck_mw_special" _fck_mw_customtag="true" _fck_mw_tagname="rss">addfeedhere|charset=UTF-8|short|max=10</span>
</p>
</div>  
</div>  
== References  ==
<h2> References  </h2>
 
<p>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.  
</p><p>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 &amp; Diagnostic Research [serial online]. August 2015;9(8):1-3. Available from: Academic Search Complete, Ipswich, MA. Accessed March 19, 2016.<br />  
 
</p><p>Ulusoy H. Fibrodysplasia ossificans progressiva without characteristic skeletal anomalies. Rheumatol Int. 2012;32(5):1379-82.
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 &amp; Diagnostic Research [serial online]. August 2015;9(8):1-3. Available from: Academic Search Complete, Ipswich, MA. Accessed March 19, 2016.<br>  
</p>
 
Ulusoy H. Fibrodysplasia ossificans progressiva without characteristic skeletal anomalies. Rheumatol Int. 2012;32(5):1379-82.

Revision as of 02:34, 22 March 2016

 

Welcome to <a href="Pathophysiology of Complex Patient Problems">PT 635 Pathophysiology of Complex Patient Problems</a> 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 - <a href="Pathophysiology of Complex Patient Problems">Students from Bellarmine University's Pathophysiology of Complex Patient Problems project.</a>

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

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

  • 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

For acute flare-ups:

  • short term high does corticosteroids
  • NSAIDS
  • Biophosphonates
  • Radiotherapy 

Diagnostic Tests/Lab Tests/Lab Values

Blood Samples

Computed Tomography

Magnetic Resonance Imaging

Bone Scans

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)

  • 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

Myositis Ossificans
Heterotropic Ossificans
Juvenile Fibromatosis
Lymphoedema
Soft tissue sarcomas

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.

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

add appropriate resources here

Recent Related Research (from <a href="http://www.ncbi.nlm.nih.gov/pubmed/">Pubmed</a>)

see tutorial on <a href="Adding PubMed Feed">Adding PubMed Feed</a>

addfeedhere|charset=UTF-8|short|max=10

References

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=136267"