Fibrodysplasia Ossificans Progressiva: Difference between revisions

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<div class="noeditbox">Welcome to &lt;a href="Pathophysiology of Complex Patient Problems"&gt;PT 635 Pathophysiology of Complex Patient Problems&lt;/a&gt; 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 <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">
'''Original Editors '''- &lt;a href="Pathophysiology of Complex Patient Problems"&gt;Students from Bellarmine University's&nbsp;Pathophysiology of Complex Patient Problems project.&lt;/a&gt;
<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>
 
</p><p><b>Top Contributors</b> - <span class="fck_mw_template">{{Special:Contributors/{{FULLPAGENAME}}}}</span> &nbsp;  
'''Top Contributors''' - <img _fck_mw_template="true" _fckrealelement="1" _fckfakelement="true" src="http://www.physio-pedia.com/extensions/FCKeditor/fckeditor/editor/images/spacer.gif" class="FCK__MWTemplate"> &nbsp;  
</p>
</div>  
</div>  
<h2> Definition/Description  </h2>
== Definition/Description  ==
<p>Fibrodysplasia Ossificans Progressiva is a rare, genetic disorder than transforms ligaments, muscles and tendons into bone outside the skeleton that impairs movement. <br />  
 
</p>
Fibrodysplasia Ossificans Progressiva is a rare, genetic disorder than transforms ligaments, muscles and tendons into bone outside the skeleton that impairs movement. <br>  
<h2> Prevalence  </h2>
 
<ul><li>1 in every 2 million people are diagnosed with Fibrodysplasia Ossificans Porgressiva  
== Prevalence  ==
</li><li>Nearly 90% of the time it is misdiagnosed and mismanaged. (Lakkrieddy)  
 
</li><li>67% undergo invasive procedures for diagnosis and treatment  
*1 in every 2 million people are diagnosed with Fibrodysplasia Ossificans Porgressiva  
</li><li>More than 50% end up with lifelong disabilities  
*Nearly 90% of the time it is misdiagnosed and mismanaged. (Lakkrieddy)  
</li><li>Mostly occurs in children<br />
*67% undergo invasive procedures for diagnosis and treatment  
</li></ul>
*More than 50% end up with lifelong disabilities  
<h2> Characteristics/Clinical Presentation  </h2>
*Mostly occurs in children<br>
<ul><li><i><b>Congenital hallux valgus with microdactyly and monophalangeal great toe are early signs&nbsp;</b></i>
 
</li><li><span>Hearing impairments in approximately 50% of patients &nbsp; &nbsp;&nbsp;</span>  
== Characteristics/Clinical Presentation  ==
</li><li>Pneumonia and right sided heart failure  
 
</li><li>Controversial malformations  
*'''''Congenital hallux valgus with microdactyly and monophalangeal great toe are early signs&nbsp;'''''
</li><li>Ossification of intercostal muscles  
*<span>Hearing impairments in approximately 50% of patients &nbsp; &nbsp;&nbsp;</span>  
</li><li>Kyphoscoliosis and lordosis  
*Pneumonia and right sided heart failure  
</li><li>Severe weight loss  
*Controversial malformations  
</li><li>Torticollis  
*Ossification of intercostal muscles  
</li><li>TMJ complications<br />  
*Kyphoscoliosis and lordosis  
</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
*Severe weight loss  
</li></ul>
*Torticollis  
<p><br />
*TMJ complications<br>  
</p>
*'''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
<h2> Medications  </h2>
 
<p><i><b>For acute flare-ups:</b></i>
<br>  
</p>
 
<ul><li>short term high does corticosteroids  
== Medications  ==
</li><li>NSAIDS  
 
</li><li>Biophosphonates<br />
'''''For acute flare-ups:'''''
</li></ul>
 
<ul><li>Radiotherapy&nbsp;<br /><br />
*short term high does corticosteroids  
</li></ul>
*NSAIDS  
<h2> Diagnostic Tests/Lab Tests/Lab Values  </h2>
*Biophosphonates<br>
<p><b>Blood Samples</b>
 
</p>
*Radiotherapy&nbsp;
<ul><li>
 
</li></ul>
'''''For chronic discomfort and ongoing flare-ups:'''''
<p><b>Computed Tomography</b>
 
</p><p><b>Magnetic Resonance Imaging</b>
*Cyclo-oxygenase-2 inhibitors
</p><p><b>Bone Scans</b>
*Leukotreine inhibitors
</p>
*Mast Cell Stabilizers
<h2> Etiology/Causes  </h2>
 
<ul><li>Genetic R206H mutation of the ACVR1 gene  
== Diagnostic Tests/Lab Tests/Lab Values  ==
</li><li>ACVR1 gene is a bone morphogenetic protein (BMP) type1 receptor signaling endochondral ossification  
 
</li><li>R206H mutation leads to an increase in enhanced BMP signaling  
'''Blood Samples'''
</li><li>Confirmation of a heterozygous gene mutation of the ACVR1 gene<br /><br />
 
</li></ul>
*Positive for heterozygous R206H mutation of the ACVR1 gene.
<h2> Systemic Involvement  </h2>
 
<p><b><u>Cardiopulmonary system</u></b>
'''Computed Tomography'''
</p>
 
<ul><li>Lungs affected caused by thoracic insufficiencies  
'''Magnetic Resonance Imaging'''
</li><li>Restrictive pulmonary diseases
 
</li></ul>
'''Bone Scans'''
<p><br />  
 
</p><p><b><u>Nervous system</u></b>
'''ESR elevated during acute flare-ups'''
</p>
 
<ul><li>Middle ear ossifications  
== Etiology/Causes  ==
</li><li>Hearing impairments&nbsp;
 
</li></ul>
*Genetic R206H mutation of the ACVR1 gene  
<h2> Medical Management (current best evidence)  </h2>
*ACVR1 gene is a bone morphogenetic protein (BMP) type1 receptor signaling endochondral ossification  
<p><i><b>Medications&nbsp;</b></i>
*R206H mutation leads to an increase in enhanced BMP signaling  
</p>
*Confirmation of a heterozygous gene mutation of the ACVR1 gene<br><br>
<ul><li>Reduces the pain and severity of flare-ups<br />
 
</li></ul>
== Systemic Involvement  ==
<p><i><b>Surgical release of joint contractures</b></i>
 
</p>
'''<u>Cardiopulmonary system</u>'''
<ul><li>Usually unsuccessful<br />
 
</li></ul>
*Lungs affected caused by thoracic insufficiencies  
<p><i><b>Osteotomy of heterotropic bone</b></i>
*Restrictive pulmonary diseases
</p>
 
<ul><li>Mobilizes joints  
<br>  
</li><li>Usually counterproductive because new heterotrophic ossificans can form at the site<br />
 
</li></ul>
'''<u>Nervous system</u>'''
<p><i><b>Repositioned surgically</b></i>
 
</p>
*Middle ear ossifications  
<ul><li>Improves the patients overall functional status  
*Hearing impairments&nbsp;
</li><li>Rare
 
</li></ul>
== Medical Management (current best evidence)  ==
<p><br />  
 
</p><p><u><b>Ultimately, there is not much that can be done to cure this disease.</b></u><br /><br />  
'''''Medications&nbsp;'''''
</p>
 
<h2> Physical Therapy Management (current best evidence)  </h2>
*Reduces the pain and severity of flare-ups<br>
<ul><li>Maintain ROM in the affected joints  
 
</li><li>Enhance the ease of ADL’s  
'''''Surgical release of joint contractures'''''
</li><li>Make their functional activities as easy as possible  
 
</li><li>Taping  
*Usually unsuccessful<br>
</li><li>Stretching  
 
</li><li>Positioning  
'''''Osteotomy of heterotropic bone'''''
</li><li>Education to relieve contractures
 
</li></ul>
*Mobilizes joints  
<h2> Differential Diagnosis  </h2>
*Usually counterproductive because new heterotrophic ossificans can form at the site<br>
<p>Myositis Ossificans<br />Heterotropic Ossificans <br />Juvenile Fibromatosis <br />Lymphoedema <br />Soft tissue sarcomas<br />  
 
</p>
'''''Repositioned surgically'''''
<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.  
*Improves the patients overall functional status  
</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  
*Rare
</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 />  
 
</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  
<br>  
</p><p><br />  
 
</p><p>3. Ulusoy H. Fibrodysplasia ossificans progressiva without characteristic skeletal anomalies. Rheumatol Int. 2012;32(5):1379-82.<br />  
<u>'''Ultimately, there is not much that can be done to cure this disease.'''</u><br><br>  
</p><p>http://search.proquest.com.libproxy.bellarmine.edu/docview/1013442999/EF79DA28CC94937PQ/2?accountid=6741  
 
</p>
== Physical Therapy Management (current best evidence)  ==
<h2> Resources <br />  </h2>
 
<p>add appropriate resources here  
*Maintain ROM in the affected joints  
</p>
*Enhance the ease of ADL’s  
<h2> Recent Related Research (from <a href="http://www.ncbi.nlm.nih.gov/pubmed/">Pubmed</a>)  </h2>
*Make their functional activities as easy as possible  
<p>see tutorial on <a href="Adding PubMed Feed">Adding PubMed Feed</a>
*Taping  
</p>
*Stretching  
*Positioning  
*Education to relieve contractures
 
== Differential Diagnosis  ==
 
Myositis Ossificans<br>Heterotropic Ossificans <br>Juvenile Fibromatosis <br>Lymphoedema <br>Soft tissue sarcomas<br>  
 
== Case Reports/ Case Studies  ==
 
&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 &lt;a href="http://www.ncbi.nlm.nih.gov/pubmed/"&gt;Pubmed&lt;/a&gt;)  ==
 
see tutorial on &lt;a href="Adding PubMed Feed"&gt;Adding PubMed Feed&lt;/a&gt;
<div class="researchbox">
<div class="researchbox">
<p><span class="fck_mw_special" _fck_mw_customtag="true" _fck_mw_tagname="rss">addfeedhere|charset=UTF-8|short|max=10</span>
<span>addfeedhere|charset=UTF-8|short|max=10</span>  
</p>
</div>  
</div>  
<h2> References  </h2>
== References  ==
<p>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 />  
Kaplan FS, Le merrer M, Glaser DL, et al. Fibrodysplasia ossificans progressiva. Best Pract Res Clin Rheumatol. 2008;22(1):191-205.  
</p><p>Ulusoy H. Fibrodysplasia ossificans progressiva without characteristic skeletal anomalies. Rheumatol Int. 2012;32(5):1379-82.
 
</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>  
 
Ulusoy H. Fibrodysplasia ossificans progressiva without characteristic skeletal anomalies. Rheumatol Int. 2012;32(5):1379-82.

Revision as of 22:58, 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 - <img _fck_mw_template="true" _fckrealelement="1" _fckfakelement="true" src="http://www.physio-pedia.com/extensions/FCKeditor/fckeditor/editor/images/spacer.gif" class="FCK__MWTemplate">  

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 

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
  • 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 <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>

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.

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