Fabry disease ‘The New Great Imposter’: results of the French Observatoire in Internal Medicine Departments (FIMeD)
Identifieur interne : 006A11 ( Istex/Corpus ); précédent : 006A10; suivant : 006A12Fabry disease ‘The New Great Imposter’: results of the French Observatoire in Internal Medicine Departments (FIMeD)
Auteurs : O. Lidove ; P. Kaminsky ; E. Hachulla ; V. Leguy-Seguin ; C. Lavigne ; I. Marie ; F. Maillot ; C. Serratrice ; A. Masseau ; P. Chérin ; J. Cabane ; E. NoelSource :
- Clinical Genetics [ 0009-9163 ] ; 2012-06.
Abstract
Lidove O, Kaminsky P, Hachulla E, Leguy‐Seguin V, Lavigne C, Marie I, Maillot F, Serratrice C, Masseau A, Chérin P, Cabane J, Noel E; on behalf of the FIMeD investigators. Fabry disease ‘The New Great Imposter’: results of the French Observatoire in Internal Medicine Departments (FIMeD). Fabry disease (FD) is an X‐linked lysosomal storage disorder due to α‐galactosidase A deficiency. It is associated with a broad range of clinical symptoms, resulting in frequent misdiagnosis and diagnostic delay, which may impact on patient outcomes. This retrospective observational study of 58 FD patients referred to 10 internal medicine departments in France aimed to review differential diagnoses received prior to diagnosis and examines diagnostic delay. The average age at the time of diagnosis was 27.6 years (range: 10–60) and 42.2 years (range: 9–77) among the 23 males and 35 females analyzed, respectively. Most common symptoms that led to FD diagnosis were family history of FD (12 males and 27 females), followed by pain in extremities (10 males and 5 females), and angiokeratoma (8 males and 4 females). Eighteen patients had received alternative diagnoses prior to FD diagnosis, including a female patient with four previous diagnoses. Four case reports are presented, which illustrate the diagnostic ‘odyssey’ and delayed diagnosis often experienced by patients. Clinicians should consider a diagnosis of FD when presented with a wide range of symptoms, thus helping to shorten the diagnostic delay and facilitating early therapy with enzyme replacement therapy to improve patient outcomes.
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DOI: 10.1111/j.1399-0004.2011.01718.x
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Lidove</name><affiliation><mods:affiliation>Department of Internal Medicine, Université Paris 7, Hôpital Bichat Claude‐Bernard, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>E-mail: olivier.lidove@bch.aphp.fr</mods:affiliation></affiliation></author><author><name sortKey="Kaminsky, P" sort="Kaminsky, P" uniqKey="Kaminsky P" first="P" last="Kaminsky">P. Kaminsky</name><affiliation><mods:affiliation>Department of Internal Medicine, CHU de Nancy, Vandoeuvre les Nancy, France</mods:affiliation></affiliation></author><author><name sortKey="Hachulla, E" sort="Hachulla, E" uniqKey="Hachulla E" first="E" last="Hachulla">E. Hachulla</name><affiliation><mods:affiliation>Department of Internal Medicine, Hôpital Claude Huriez, Université de Lille 2, Lille, France</mods:affiliation></affiliation></author><author><name sortKey="Leguy Eguin, V" sort="Leguy Eguin, V" uniqKey="Leguy Eguin V" first="V" last="Leguy-Seguin">V. Leguy-Seguin</name><affiliation><mods:affiliation>Department of Internal Medicine, CHU de Dijon, Dijon, France</mods:affiliation></affiliation></author><author><name sortKey="Lavigne, C" sort="Lavigne, C" uniqKey="Lavigne C" first="C" last="Lavigne">C. Lavigne</name><affiliation><mods:affiliation>Department of Internal Medicine and Gerontology, CHU Angers, Angers, France</mods:affiliation></affiliation></author><author><name sortKey="Marie, I" sort="Marie, I" uniqKey="Marie I" first="I" last="Marie">I. Marie</name><affiliation><mods:affiliation>Department of Internal Medicine, CHU de Rouen, Rouen, France</mods:affiliation></affiliation></author><author><name sortKey="Maillot, F" sort="Maillot, F" uniqKey="Maillot F" first="F" last="Maillot">F. Maillot</name><affiliation><mods:affiliation>Department of Internal Medicine and Nutrition, CHRU de Tours, University François Rabelais, Tours, France</mods:affiliation></affiliation></author><author><name sortKey="Serratrice, C" sort="Serratrice, C" uniqKey="Serratrice C" first="C" last="Serratrice">C. Serratrice</name><affiliation><mods:affiliation>Department of Internal Medicine, CHU Timone, Marseille, France</mods:affiliation></affiliation></author><author><name sortKey="Masseau, A" sort="Masseau, A" uniqKey="Masseau A" first="A" last="Masseau">A. Masseau</name><affiliation><mods:affiliation>Department of Internal Medicine, CHU de Nantes, Nantes, France</mods:affiliation></affiliation></author><author><name sortKey="Cherin, P" sort="Cherin, P" uniqKey="Cherin P" first="P" last="Chérin">P. Chérin</name><affiliation><mods:affiliation>Department of Internal Medicine, CHU Pitié‐Salpêtrière, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Cabane, J" sort="Cabane, J" uniqKey="Cabane J" first="J" last="Cabane">J. Cabane</name><affiliation><mods:affiliation>Department of Internal Medicine, Hôpital Saint Antoine, Université Paris 6, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Noel, E" sort="Noel, E" uniqKey="Noel E" first="E" last="Noel">E. Noel</name><affiliation><mods:affiliation>Department of Internal Medicine, Hôpitaux Universitaires de Strasbourg, Strasbourg, France</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">Clinical Genetics</title><title level="j" type="alt">CLINICAL GENETICS</title><idno type="ISSN">0009-9163</idno><idno type="eISSN">1399-0004</idno><imprint><biblScope unit="vol">81</biblScope><biblScope unit="issue">6</biblScope><biblScope unit="page" from="571">571</biblScope><biblScope unit="page" to="577">577</biblScope><biblScope unit="page-count">7</biblScope><publisher>Blackwell Publishing Ltd</publisher><pubPlace>Oxford, UK</pubPlace><date type="published" when="2012-06">2012-06</date></imprint><idno type="ISSN">0009-9163</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0009-9163</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Lidove O, Kaminsky P, Hachulla E, Leguy‐Seguin V, Lavigne C, Marie I, Maillot F, Serratrice C, Masseau A, Chérin P, Cabane J, Noel E; on behalf of the FIMeD investigators. Fabry disease ‘The New Great Imposter’: results of the French Observatoire in Internal Medicine Departments (FIMeD). Fabry disease (FD) is an X‐linked lysosomal storage disorder due to α‐galactosidase A deficiency. It is associated with a broad range of clinical symptoms, resulting in frequent misdiagnosis and diagnostic delay, which may impact on patient outcomes. This retrospective observational study of 58 FD patients referred to 10 internal medicine departments in France aimed to review differential diagnoses received prior to diagnosis and examines diagnostic delay. The average age at the time of diagnosis was 27.6 years (range: 10–60) and 42.2 years (range: 9–77) among the 23 males and 35 females analyzed, respectively. Most common symptoms that led to FD diagnosis were family history of FD (12 males and 27 females), followed by pain in extremities (10 males and 5 females), and angiokeratoma (8 males and 4 females). Eighteen patients had received alternative diagnoses prior to FD diagnosis, including a female patient with four previous diagnoses. Four case reports are presented, which illustrate the diagnostic ‘odyssey’ and delayed diagnosis often experienced by patients. Clinicians should consider a diagnosis of FD when presented with a wide range of symptoms, thus helping to shorten the diagnostic delay and facilitating early therapy with enzyme replacement therapy to improve patient outcomes.</div></front></TEI><istex><corpusName>wiley</corpusName><keywords><teeft><json:string>fabry</json:string><json:string>fabry disease</json:string><json:string>cardiomyopathy</json:string><json:string>internal medicine</json:string><json:string>hypertrophic</json:string><json:string>lidove</json:string><json:string>genet</json:string><json:string>hypertrophic cardiomyopathy</json:string><json:string>mutation</json:string><json:string>galactosidase</json:string><json:string>cohort</json:string><json:string>cornea</json:string><json:string>angiokeratoma</json:string><json:string>diagnostic delay</json:string><json:string>verticillata</json:string><json:string>internal medicine departments</json:string><json:string>enzyme replacement 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Hachulla</name><affiliations><json:string>Department of Internal Medicine, Hôpital Claude Huriez, Université de Lille 2, Lille, France</json:string></affiliations></json:item><json:item><name>V Leguy‐Seguin</name><affiliations><json:string>Department of Internal Medicine, CHU de Dijon, Dijon, France</json:string></affiliations></json:item><json:item><name>C Lavigne</name><affiliations><json:string>Department of Internal Medicine and Gerontology, CHU Angers, Angers, France</json:string></affiliations></json:item><json:item><name>I Marie</name><affiliations><json:string>Department of Internal Medicine, CHU de Rouen, Rouen, France</json:string></affiliations></json:item><json:item><name>F Maillot</name><affiliations><json:string>Department of Internal Medicine and Nutrition, CHRU de Tours, University François Rabelais, Tours, France</json:string></affiliations></json:item><json:item><name>C Serratrice</name><affiliations><json:string>Department of Internal Medicine, CHU Timone, Marseille, 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therapy</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Fabry disease</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>lysosomal storage disease</value></json:item></subject><articleId><json:string>CGE1718</json:string></articleId><language><json:string>eng</json:string></language><originalGenre><json:string>article</json:string></originalGenre><abstract>Lidove O, Kaminsky P, Hachulla E, Leguy‐Seguin V, Lavigne C, Marie I, Maillot F, Serratrice C, Masseau A, Chérin P, Cabane J, Noel E; on behalf of the FIMeD investigators. Fabry disease ‘The New Great Imposter’: results of the French Observatoire in Internal Medicine Departments (FIMeD). Fabry disease (FD) is an X‐linked lysosomal storage disorder due to α‐galactosidase A deficiency. It is associated with a broad range of clinical symptoms, resulting in frequent misdiagnosis and diagnostic delay, which may impact on patient outcomes. This retrospective observational study of 58 FD patients referred to 10 internal medicine departments in France aimed to review differential diagnoses received prior to diagnosis and examines diagnostic delay. The average age at the time of diagnosis was 27.6 years (range: 10–60) and 42.2 years (range: 9–77) among the 23 males and 35 females analyzed, respectively. Most common symptoms that led to FD diagnosis were family history of FD (12 males and 27 females), followed by pain in extremities (10 males and 5 females), and angiokeratoma (8 males and 4 females). Eighteen patients had received alternative diagnoses prior to FD diagnosis, including a female patient with four previous diagnoses. Four case reports are presented, which illustrate the diagnostic ‘odyssey’ and delayed diagnosis often experienced by patients. 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Tel.: +33 1 40 25 87 06;
fax: +33 1 40 25 88 45;
e‐mail: olivier.lidove@bch.aphp.fr</affiliation></author><author xml:id="author-0001"><persName><forename type="first">P</forename><surname>Kaminsky</surname></persName><affiliation>Department of Internal Medicine, CHU de Nancy, Vandoeuvre les Nancy, France<address><country key="FR"></country></address></affiliation></author><author xml:id="author-0002"><persName><forename type="first">E</forename><surname>Hachulla</surname></persName><affiliation>Department of Internal Medicine, Hôpital Claude Huriez, Université de Lille 2, Lille, France<address><country key="FR"></country></address></affiliation></author><author xml:id="author-0003"><persName><forename type="first">V</forename><surname>Leguy‐Seguin</surname></persName><affiliation>Department of Internal Medicine, CHU de Dijon, Dijon, France<address><country key="FR"></country></address></affiliation></author><author xml:id="author-0004"><persName><forename type="first">C</forename><surname>Lavigne</surname></persName><affiliation>Department of Internal Medicine and Gerontology, CHU Angers, Angers, France<address><country key="FR"></country></address></affiliation></author><author xml:id="author-0005"><persName><forename type="first">I</forename><surname>Marie</surname></persName><affiliation>Department of Internal Medicine, CHU de Rouen, Rouen, France<address><country key="FR"></country></address></affiliation></author><author xml:id="author-0006"><persName><forename type="first">F</forename><surname>Maillot</surname></persName><affiliation>Department of Internal Medicine and Nutrition, CHRU de Tours, University François Rabelais, Tours, France<address><country key="FR"></country></address></affiliation></author><author xml:id="author-0007"><persName><forename type="first">C</forename><surname>Serratrice</surname></persName><affiliation>Department of Internal Medicine, CHU Timone, Marseille, France<address><country key="FR"></country></address></affiliation></author><author xml:id="author-0008"><persName><forename type="first">A</forename><surname>Masseau</surname></persName><affiliation>Department of Internal Medicine, CHU de Nantes, Nantes, France<address><country key="FR"></country></address></affiliation></author><author xml:id="author-0009"><persName><forename type="first">P</forename><surname>Chérin</surname></persName><affiliation>Department of Internal Medicine, CHU Pitié‐Salpêtrière, Paris, France<address><country key="FR"></country></address></affiliation></author><author xml:id="author-0010"><persName><forename type="first">J</forename><surname>Cabane</surname></persName><affiliation>Department of Internal Medicine, Hôpital Saint Antoine, Université Paris 6, Paris, France<address><country key="FR"></country></address></affiliation></author><author xml:id="author-0011"><persName><forename type="first">E</forename><surname>Noel</surname></persName><affiliation>Department of Internal Medicine, Hôpitaux Universitaires de Strasbourg, Strasbourg, France<address><country key="FR"></country></address></affiliation></author><author xml:id="author-0012"><author><orgName>on behalf of the FIMeD investigators</orgName></author></author><idno type="istex">E282B23AB7DB9C1C1E6836A552560F4C91E6BED2</idno><idno type="DOI">10.1111/j.1399-0004.2011.01718.x</idno><idno type="unit">CGE1718</idno><idno type="toTypesetVersion">file:CGE.CGE1718.pdf</idno></analytic><monogr><title level="j" type="main">Clinical Genetics</title><title level="j" type="alt">CLINICAL GENETICS</title><idno type="pISSN">0009-9163</idno><idno type="eISSN">1399-0004</idno><idno type="book-DOI">10.1111/(ISSN)1399-0004</idno><idno type="book-part-DOI">10.1111/cge.2012.81.issue-6</idno><idno type="product">CGE</idno><idno type="publisherDivision">ST</idno><imprint><biblScope unit="vol">81</biblScope><biblScope unit="issue">6</biblScope><biblScope unit="page" from="571">571</biblScope><biblScope unit="page" to="577">577</biblScope><biblScope unit="page-count">7</biblScope><publisher>Blackwell Publishing Ltd</publisher><pubPlace>Oxford, UK</pubPlace><date type="published" when="2012-06"></date></imprint></monogr></biblStruct></sourceDesc></fileDesc><profileDesc><abstract xml:lang="en" style="main"><p>Lidove O, Kaminsky P, Hachulla E, Leguy‐Seguin V, Lavigne C, Marie I, Maillot F, Serratrice C, Masseau A, Chérin P, Cabane J, Noel E; on behalf of the FIMeD investigators. Fabry disease ‘The New Great Imposter’: results of the French Observatoire in Internal Medicine Departments (FIMeD).</p><p>Fabry disease (FD) is an X‐linked lysosomal storage disorder due to <hi rend="italic">α</hi>‐galactosidase A deficiency. It is associated with a broad range of clinical symptoms, resulting in frequent misdiagnosis and diagnostic delay, which may impact on patient outcomes. This retrospective observational study of 58 FD patients referred to 10 internal medicine departments in France aimed to review differential diagnoses received prior to diagnosis and examines diagnostic delay. The average age at the time of diagnosis was 27.6 years (range: 10–60) and 42.2 years (range: 9–77) among the 23 males and 35 females analyzed, respectively. Most common symptoms that led to FD diagnosis were family history of FD (12 males and 27 females), followed by pain in extremities (10 males and 5 females), and angiokeratoma (8 males and 4 females). Eighteen patients had received alternative diagnoses prior to FD diagnosis, including a female patient with four previous diagnoses. Four case reports are presented, which illustrate the diagnostic ‘odyssey’ and delayed diagnosis often experienced by patients. Clinicians should consider a diagnosis of FD when presented with a wide range of symptoms, thus helping to shorten the diagnostic delay and facilitating early therapy with enzyme replacement therapy to improve patient outcomes.</p></abstract><textClass><keywords xml:lang="en"><term xml:id="k1">delayed diagnosis</term><term xml:id="k2">enzyme replacement therapy</term><term xml:id="k3">Fabry disease</term><term xml:id="k4">lysosomal storage disease</term></keywords><classCode scheme="tocHeading1">SHORT REPORTS</classCode></textClass><langUsage><language ident="EN"></language></langUsage></profileDesc></teiHeader></istex:fulltextTEI><json:item><extension>txt</extension><original>false</original><mimetype>text/plain</mimetype><uri>https://api.istex.fr/document/E282B23AB7DB9C1C1E6836A552560F4C91E6BED2/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>Blackwell Publishing Ltd</publisherName><publisherLoc>Oxford, UK</publisherLoc></publisherInfo><doi origin="wiley" registered="yes">10.1111/(ISSN)1399-0004</doi><issn type="print">0009-9163</issn><issn type="electronic">1399-0004</issn><idGroup><id type="product" value="CGE"></id><id type="publisherDivision" value="ST"></id></idGroup><titleGroup><title type="main" sort="CLINICAL GENETICS">Clinical Genetics</title></titleGroup></publicationMeta><publicationMeta level="part" position="06106"><doi origin="wiley">10.1111/cge.2012.81.issue-6</doi><numberingGroup><numbering type="journalVolume" number="81">81</numbering><numbering type="journalIssue" number="6">6</numbering></numberingGroup><coverDate startDate="2012-06">June 2012</coverDate></publicationMeta><publicationMeta level="unit" type="article" position="9" status="forIssue"><doi origin="wiley">10.1111/j.1399-0004.2011.01718.x</doi><idGroup><id type="unit" value="CGE1718"></id></idGroup><countGroup><count type="pageTotal" number="7"></count></countGroup><titleGroup><title type="tocHeading1">SHORT REPORTS</title></titleGroup><copyright>© 2011 John Wiley & Sons A/S</copyright><eventGroup><event type="xmlConverted" agent="Converter:BPG_TO_WML3G version:3.1.3 standalone mode:FullText" date="2012-05-04"></event><event type="publishedOnlineAccepted" date="2011-05-30"></event><event type="publishedOnlineEarlyUnpaginated" date="2011-06-21"></event><event type="firstOnline" date="2011-06-21"></event><event type="publishedOnlineFinalForm" date="2012-05-04"></event><event type="xmlConverted" agent="Converter:WILEY_ML3G_TO_WILEY_ML3GV2 version:3.8.8" date="2014-01-09"></event><event type="xmlConverted" agent="Converter:WML3G_To_WML3G version:4.3.4 mode:FullText" date="2015-02-25"></event></eventGroup><numberingGroup><numbering type="pageFirst" number="571">571</numbering><numbering type="pageLast" number="577">577</numbering></numberingGroup><correspondenceTo>Olivier Lidove, MD, Department of Internal Medicine, Hôpital Bichat Claude‐Bernard, 46 rue Henri Huchard, 75877 Paris Cedex 18, France.
Tel.: +33 1 40 25 87 06;
fax: +33 1 40 25 88 45;
e‐mail: <email>olivier.lidove@bch.aphp.fr</email></correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:CGE.CGE1718.pdf"></link></linkGroup></publicationMeta><contentMeta><unparsedEditorialHistory>Received 13 December 2010, revised and accepted for publication 25 May 2011</unparsedEditorialHistory><countGroup><count type="figureTotal" number="2"></count><count type="tableTotal" number="2"></count><count type="formulaTotal" number="0"></count><count type="referenceTotal" number="29"></count></countGroup><titleGroup><title type="main">Fabry disease ‘The New Great Imposter’: results of the French Observatoire in Internal Medicine Departments (FIMeD)</title><title type="shortAuthors">Lidove et al.</title></titleGroup><creators><creator creatorRole="author" xml:id="cr1" affiliationRef="#a1" corresponding="yes"><personName><givenNames>O</givenNames><familyName>Lidove</familyName></personName></creator><creator creatorRole="author" xml:id="cr2" affiliationRef="#a2"><personName><givenNames>P</givenNames><familyName>Kaminsky</familyName></personName></creator><creator creatorRole="author" xml:id="cr3" affiliationRef="#a3"><personName><givenNames>E</givenNames><familyName>Hachulla</familyName></personName></creator><creator creatorRole="author" xml:id="cr4" affiliationRef="#a4"><personName><givenNames>V</givenNames><familyName>Leguy‐Seguin</familyName></personName></creator><creator creatorRole="author" xml:id="cr5" affiliationRef="#a5"><personName><givenNames>C</givenNames><familyName>Lavigne</familyName></personName></creator><creator creatorRole="author" xml:id="cr6" affiliationRef="#a6"><personName><givenNames>I</givenNames><familyName>Marie</familyName></personName></creator><creator creatorRole="author" xml:id="cr7" affiliationRef="#a7"><personName><givenNames>F</givenNames><familyName>Maillot</familyName></personName></creator><creator creatorRole="author" xml:id="cr8" 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7, Hôpital Bichat Claude‐Bernard, Paris, France</unparsedAffiliation></affiliation><affiliation xml:id="a2" countryCode="FR"><unparsedAffiliation>Department of Internal Medicine, CHU de Nancy, Vandoeuvre les Nancy, France</unparsedAffiliation></affiliation><affiliation xml:id="a3" countryCode="FR"><unparsedAffiliation>Department of Internal Medicine, Hôpital Claude Huriez, Université de Lille 2, Lille, France</unparsedAffiliation></affiliation><affiliation xml:id="a4" countryCode="FR"><unparsedAffiliation>Department of Internal Medicine, CHU de Dijon, Dijon, France</unparsedAffiliation></affiliation><affiliation xml:id="a5" countryCode="FR"><unparsedAffiliation>Department of Internal Medicine and Gerontology, CHU Angers, Angers, France</unparsedAffiliation></affiliation><affiliation xml:id="a6" countryCode="FR"><unparsedAffiliation>Department of Internal Medicine, CHU de Rouen, Rouen, France</unparsedAffiliation></affiliation><affiliation xml:id="a7" countryCode="FR"><unparsedAffiliation>Department of Internal Medicine and Nutrition, CHRU de Tours, University François Rabelais, Tours, France</unparsedAffiliation></affiliation><affiliation xml:id="a8" countryCode="FR"><unparsedAffiliation>Department of Internal Medicine, CHU Timone, Marseille, France</unparsedAffiliation></affiliation><affiliation xml:id="a9" countryCode="FR"><unparsedAffiliation>Department of Internal Medicine, CHU de Nantes, Nantes, France</unparsedAffiliation></affiliation><affiliation xml:id="a10" countryCode="FR"><unparsedAffiliation>Department of Internal Medicine, CHU Pitié‐Salpêtrière, Paris, France</unparsedAffiliation></affiliation><affiliation xml:id="a11" countryCode="FR"><unparsedAffiliation>Department of Internal Medicine, Hôpital Saint Antoine, Université Paris 6, Paris, France</unparsedAffiliation></affiliation><affiliation xml:id="a12" countryCode="FR"><unparsedAffiliation>Department of Internal Medicine, Hôpitaux Universitaires de Strasbourg, Strasbourg, France</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en"><keyword xml:id="k1">delayed diagnosis</keyword><keyword xml:id="k2">enzyme replacement therapy</keyword><keyword xml:id="k3">Fabry disease</keyword><keyword xml:id="k4">lysosomal storage disease</keyword></keywordGroup><abstractGroup><abstract type="main" xml:lang="en"><p>Lidove O, Kaminsky P, Hachulla E, Leguy‐Seguin V, Lavigne C, Marie I, Maillot F, Serratrice C, Masseau A, Chérin P, Cabane J, Noel E; on behalf of the FIMeD investigators. Fabry disease ‘The New Great Imposter’: results of the French Observatoire in Internal Medicine Departments (FIMeD).</p><p>Fabry disease (FD) is an X‐linked lysosomal storage disorder due to <i>α</i>‐galactosidase A deficiency. It is associated with a broad range of clinical symptoms, resulting in frequent misdiagnosis and diagnostic delay, which may impact on patient outcomes. This retrospective observational study of 58 FD patients referred to 10 internal medicine departments in France aimed to review differential diagnoses received prior to diagnosis and examines diagnostic delay. The average age at the time of diagnosis was 27.6 years (range: 10–60) and 42.2 years (range: 9–77) among the 23 males and 35 females analyzed, respectively. Most common symptoms that led to FD diagnosis were family history of FD (12 males and 27 females), followed by pain in extremities (10 males and 5 females), and angiokeratoma (8 males and 4 females). Eighteen patients had received alternative diagnoses prior to FD diagnosis, including a female patient with four previous diagnoses. Four case reports are presented, which illustrate the diagnostic ‘odyssey’ and delayed diagnosis often experienced by patients. Clinicians should consider a diagnosis of FD when presented with a wide range of symptoms, thus helping to shorten the diagnostic delay and facilitating early therapy with enzyme replacement therapy to improve patient outcomes.</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Fabry disease ‘The New Great Imposter’: results of the French Observatoire in Internal Medicine Departments (FIMeD)</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Fabry disease ‘The New Great Imposter’: results of the French Observatoire in Internal Medicine Departments (FIMeD)</title></titleInfo><name type="personal"><namePart type="given">O</namePart><namePart type="family">Lidove</namePart><affiliation>Department of Internal Medicine, Université Paris 7, Hôpital Bichat Claude‐Bernard, Paris, France</affiliation><affiliation>E-mail: olivier.lidove@bch.aphp.fr</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">P</namePart><namePart type="family">Kaminsky</namePart><affiliation>Department of Internal Medicine, CHU de Nancy, Vandoeuvre les Nancy, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">E</namePart><namePart type="family">Hachulla</namePart><affiliation>Department of Internal Medicine, Hôpital Claude Huriez, Université de Lille 2, Lille, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">V</namePart><namePart type="family">Leguy‐Seguin</namePart><affiliation>Department of Internal Medicine, CHU de Dijon, Dijon, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">C</namePart><namePart type="family">Lavigne</namePart><affiliation>Department of Internal Medicine and Gerontology, CHU Angers, Angers, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">I</namePart><namePart type="family">Marie</namePart><affiliation>Department of Internal Medicine, CHU de Rouen, Rouen, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">F</namePart><namePart type="family">Maillot</namePart><affiliation>Department of Internal Medicine and Nutrition, CHRU de Tours, University François Rabelais, Tours, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">C</namePart><namePart type="family">Serratrice</namePart><affiliation>Department of Internal Medicine, CHU Timone, Marseille, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">A</namePart><namePart type="family">Masseau</namePart><affiliation>Department of Internal Medicine, CHU de Nantes, Nantes, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">P</namePart><namePart type="family">Chérin</namePart><affiliation>Department of Internal Medicine, CHU Pitié‐Salpêtrière, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">J</namePart><namePart type="family">Cabane</namePart><affiliation>Department of Internal Medicine, Hôpital Saint Antoine, Université Paris 6, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">E</namePart><namePart type="family">Noel</namePart><affiliation>Department of Internal Medicine, Hôpitaux Universitaires de Strasbourg, Strasbourg, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="corporate"><namePart>on behalf of the FIMeD investigators</namePart><description>Department of Internal Medicine, Université Paris 7, Hôpital Bichat Claude‐Bernard, Paris, FranceDepartment of Internal Medicine, CHU de Nancy, Vandoeuvre les Nancy, FranceDepartment of Internal Medicine, Hôpital Claude Huriez, Université de Lille 2, Lille, FranceDepartment of Internal Medicine, CHU de Dijon, Dijon, FranceDepartment of Internal Medicine and Gerontology, CHU Angers, Angers, FranceDepartment of Internal Medicine, CHU de Rouen, Rouen, FranceDepartment of Internal Medicine and Nutrition, CHRU de Tours, University François Rabelais, Tours, FranceDepartment of Internal Medicine, CHU Timone, Marseille, FranceDepartment of Internal Medicine, CHU de Nantes, Nantes, FranceDepartment of Internal Medicine, CHU Pitié‐Salpêtrière, Paris, FranceDepartment of Internal Medicine, Hôpital Saint Antoine, Université Paris 6, Paris, FranceDepartment of Internal Medicine, Hôpitaux Universitaires de Strasbourg, Strasbourg, France</description></name><typeOfResource>text</typeOfResource><genre type="article" displayLabel="article"></genre><originInfo><publisher>Blackwell Publishing Ltd</publisher><place><placeTerm type="text">Oxford, UK</placeTerm></place><dateIssued encoding="w3cdtf">2012-06</dateIssued><edition>Received 13 December 2010, revised and accepted for publication 25 May 2011</edition><copyrightDate encoding="w3cdtf">2012</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="figures">2</extent><extent unit="tables">2</extent><extent unit="references">29</extent></physicalDescription><abstract lang="en">Lidove O, Kaminsky P, Hachulla E, Leguy‐Seguin V, Lavigne C, Marie I, Maillot F, Serratrice C, Masseau A, Chérin P, Cabane J, Noel E; on behalf of the FIMeD investigators. Fabry disease ‘The New Great Imposter’: results of the French Observatoire in Internal Medicine Departments (FIMeD). Fabry disease (FD) is an X‐linked lysosomal storage disorder due to α‐galactosidase A deficiency. It is associated with a broad range of clinical symptoms, resulting in frequent misdiagnosis and diagnostic delay, which may impact on patient outcomes. This retrospective observational study of 58 FD patients referred to 10 internal medicine departments in France aimed to review differential diagnoses received prior to diagnosis and examines diagnostic delay. The average age at the time of diagnosis was 27.6 years (range: 10–60) and 42.2 years (range: 9–77) among the 23 males and 35 females analyzed, respectively. Most common symptoms that led to FD diagnosis were family history of FD (12 males and 27 females), followed by pain in extremities (10 males and 5 females), and angiokeratoma (8 males and 4 females). Eighteen patients had received alternative diagnoses prior to FD diagnosis, including a female patient with four previous diagnoses. Four case reports are presented, which illustrate the diagnostic ‘odyssey’ and delayed diagnosis often experienced by patients. Clinicians should consider a diagnosis of FD when presented with a wide range of symptoms, thus helping to shorten the diagnostic delay and facilitating early therapy with enzyme replacement therapy to improve patient outcomes.</abstract><subject lang="en"><genre>keywords</genre><topic>delayed diagnosis</topic><topic>enzyme replacement therapy</topic><topic>Fabry disease</topic><topic>lysosomal storage disease</topic></subject><relatedItem type="host"><titleInfo><title>Clinical Genetics</title></titleInfo><genre type="journal">journal</genre><identifier type="ISSN">0009-9163</identifier><identifier type="eISSN">1399-0004</identifier><identifier type="DOI">10.1111/(ISSN)1399-0004</identifier><identifier type="PublisherID">CGE</identifier><part><date>2012</date><detail type="volume"><caption>vol.</caption><number>81</number></detail><detail type="issue"><caption>no.</caption><number>6</number></detail><extent unit="pages"><start>571</start><end>577</end><total>7</total></extent></part></relatedItem><identifier type="istex">E282B23AB7DB9C1C1E6836A552560F4C91E6BED2</identifier><identifier type="DOI">10.1111/j.1399-0004.2011.01718.x</identifier><identifier type="ArticleID">CGE1718</identifier><accessCondition type="use and reproduction" contentType="copyright">© 2011 John Wiley & Sons A/S</accessCondition><recordInfo><recordContentSource>WILEY</recordContentSource><recordOrigin>Blackwell Publishing Ltd</recordOrigin></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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