Fabry disease ‘The New Great Imposter’: results of the French Observatoire in Internal Medicine Departments (FIMeD)
Identifieur interne : 000245 ( France/Analysis ); précédent : 000244; suivant : 000246Fabry disease ‘The New Great Imposter’: results of the French Observatoire in Internal Medicine Departments (FIMeD)
Auteurs : O. Lidove [France] ; P. Kaminsky [France] ; E. Hachulla [France] ; V. Leguy-Seguin [France] ; C. Lavigne [France] ; I. Marie [France] ; F. Maillot [France] ; C. Serratrice [France] ; A. Masseau [France] ; P. Chérin [France] ; J. Cabane [France] ; E. Noel [France]Source :
- 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.
Url:
DOI: 10.1111/j.1399-0004.2011.01718.x
Affiliations:
- France
- Alsace (région administrative), Bourgogne, Bourgogne-Franche-Comté, Centre-Val de Loire, Grand Est, Haute-Normandie, Hauts-de-France, Lorraine (région), Nord-Pas-de-Calais, Pays de la Loire, Provence-Alpes-Côte d'Azur, Région Centre, Région Normandie, Île-de-France
- Angers, Dijon, Lille, Marseille, Nancy, Nantes, Paris, Rouen, Strasbourg, Tours, Vandœuvre-lès-Nancy
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Noel</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Department of Internal Medicine, Hôpitaux Universitaires de Strasbourg, Strasbourg</wicri:regionArea><placeName><region type="region">Grand Est</region><region type="old region">Alsace (région administrative)</region><settlement type="city">Strasbourg</settlement></placeName></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><affiliations><list><country><li>France</li></country><region><li>Alsace (région administrative)</li><li>Bourgogne</li><li>Bourgogne-Franche-Comté</li><li>Centre-Val de Loire</li><li>Grand Est</li><li>Haute-Normandie</li><li>Hauts-de-France</li><li>Lorraine (région)</li><li>Nord-Pas-de-Calais</li><li>Pays de la Loire</li><li>Provence-Alpes-Côte d'Azur</li><li>Région Centre</li><li>Région Normandie</li><li>Île-de-France</li></region><settlement><li>Angers</li><li>Dijon</li><li>Lille</li><li>Marseille</li><li>Nancy</li><li>Nantes</li><li>Paris</li><li>Rouen</li><li>Strasbourg</li><li>Tours</li><li>Vandœuvre-lès-Nancy</li></settlement></list><tree><country name="France"><region name="Île-de-France"><name sortKey="Lidove, O" sort="Lidove, O" uniqKey="Lidove O" first="O" last="Lidove">O. Lidove</name></region><name sortKey="Cabane, J" sort="Cabane, J" uniqKey="Cabane J" first="J" last="Cabane">J. Cabane</name><name sortKey="Cherin, P" sort="Cherin, P" uniqKey="Cherin P" first="P" last="Chérin">P. Chérin</name><name sortKey="Hachulla, E" sort="Hachulla, E" uniqKey="Hachulla E" first="E" last="Hachulla">E. Hachulla</name><name sortKey="Kaminsky, P" sort="Kaminsky, P" uniqKey="Kaminsky P" first="P" last="Kaminsky">P. Kaminsky</name><name sortKey="Lavigne, C" sort="Lavigne, C" uniqKey="Lavigne C" first="C" last="Lavigne">C. Lavigne</name><name sortKey="Leguy Eguin, V" sort="Leguy Eguin, V" uniqKey="Leguy Eguin V" first="V" last="Leguy-Seguin">V. Leguy-Seguin</name><name sortKey="Lidove, O" sort="Lidove, O" uniqKey="Lidove O" first="O" last="Lidove">O. Lidove</name><name sortKey="Maillot, F" sort="Maillot, F" uniqKey="Maillot F" first="F" last="Maillot">F. Maillot</name><name sortKey="Marie, I" sort="Marie, I" uniqKey="Marie I" first="I" last="Marie">I. Marie</name><name sortKey="Masseau, A" sort="Masseau, A" uniqKey="Masseau A" first="A" last="Masseau">A. Masseau</name><name sortKey="Noel, E" sort="Noel, E" uniqKey="Noel E" first="E" last="Noel">E. Noel</name><name sortKey="Serratrice, C" sort="Serratrice, C" uniqKey="Serratrice C" first="C" last="Serratrice">C. Serratrice</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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