Fabry disease ‘The New Great Imposter’: results of the French Observatoire in Internal Medicine Departments (FIMeD)
Identifieur interne : 006A11 ( Istex/Curation ); précédent : 006A10; suivant : 006A12Fabry 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
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: Pour aller vers cette notice dans l'étape Curation :006A11
Links to Exploration step
ISTEX:E282B23AB7DB9C1C1E6836A552560F4C91E6BED2Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Fabry disease ‘The New Great Imposter’: results of the French Observatoire in Internal Medicine Departments (FIMeD)</title><author><name sortKey="Lidove, O" sort="Lidove, O" uniqKey="Lidove O" first="O" last="Lidove">O. Lidove</name><affiliation wicri:level="1"><mods:affiliation>Department of Internal Medicine, Université Paris 7, Hôpital Bichat Claude‐Bernard, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Internal Medicine, Université Paris 7, Hôpital Bichat Claude‐Bernard, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>E-mail: olivier.lidove@bch.aphp.fr</mods:affiliation><country wicri:rule="url">France</country></affiliation></author><author><name sortKey="Kaminsky, P" sort="Kaminsky, P" uniqKey="Kaminsky P" first="P" last="Kaminsky">P. Kaminsky</name><affiliation wicri:level="1"><mods:affiliation>Department of Internal Medicine, CHU de Nancy, Vandoeuvre les Nancy, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Internal Medicine, CHU de Nancy, Vandoeuvre les Nancy</wicri:regionArea></affiliation></author><author><name sortKey="Hachulla, E" sort="Hachulla, E" uniqKey="Hachulla E" first="E" last="Hachulla">E. Hachulla</name><affiliation wicri:level="1"><mods:affiliation>Department of Internal Medicine, Hôpital Claude Huriez, Université de Lille 2, Lille, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Internal Medicine, Hôpital Claude Huriez, Université de Lille 2, Lille</wicri:regionArea></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 wicri:level="1"><mods:affiliation>Department of Internal Medicine, CHU de Dijon, Dijon, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Internal Medicine, CHU de Dijon, Dijon</wicri:regionArea></affiliation></author><author><name sortKey="Lavigne, C" sort="Lavigne, C" uniqKey="Lavigne C" first="C" last="Lavigne">C. Lavigne</name><affiliation wicri:level="1"><mods:affiliation>Department of Internal Medicine and Gerontology, CHU Angers, Angers, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Internal Medicine and Gerontology, CHU Angers, Angers</wicri:regionArea></affiliation></author><author><name sortKey="Marie, I" sort="Marie, I" uniqKey="Marie I" first="I" last="Marie">I. Marie</name><affiliation wicri:level="1"><mods:affiliation>Department of Internal Medicine, CHU de Rouen, Rouen, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Internal Medicine, CHU de Rouen, Rouen</wicri:regionArea></affiliation></author><author><name sortKey="Maillot, F" sort="Maillot, F" uniqKey="Maillot F" first="F" last="Maillot">F. Maillot</name><affiliation wicri:level="1"><mods:affiliation>Department of Internal Medicine and Nutrition, CHRU de Tours, University François Rabelais, Tours, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Internal Medicine and Nutrition, CHRU de Tours, University François Rabelais, Tours</wicri:regionArea></affiliation></author><author><name sortKey="Serratrice, C" sort="Serratrice, C" uniqKey="Serratrice C" first="C" last="Serratrice">C. Serratrice</name><affiliation wicri:level="1"><mods:affiliation>Department of Internal Medicine, CHU Timone, Marseille, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Internal Medicine, CHU Timone, Marseille</wicri:regionArea></affiliation></author><author><name sortKey="Masseau, A" sort="Masseau, A" uniqKey="Masseau A" first="A" last="Masseau">A. Masseau</name><affiliation wicri:level="1"><mods:affiliation>Department of Internal Medicine, CHU de Nantes, Nantes, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Internal Medicine, CHU de Nantes, Nantes</wicri:regionArea></affiliation></author><author><name sortKey="Cherin, P" sort="Cherin, P" uniqKey="Cherin P" first="P" last="Chérin">P. Chérin</name><affiliation wicri:level="1"><mods:affiliation>Department of Internal Medicine, CHU Pitié‐Salpêtrière, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Internal Medicine, CHU Pitié‐Salpêtrière, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Cabane, J" sort="Cabane, J" uniqKey="Cabane J" first="J" last="Cabane">J. Cabane</name><affiliation wicri:level="1"><mods:affiliation>Department of Internal Medicine, Hôpital Saint Antoine, Université Paris 6, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Internal Medicine, Hôpital Saint Antoine, Université Paris 6, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Noel, E" sort="Noel, E" uniqKey="Noel E" first="E" last="Noel">E. Noel</name><affiliation wicri:level="1"><mods:affiliation>Department of Internal Medicine, Hôpitaux Universitaires de Strasbourg, Strasbourg, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Internal Medicine, Hôpitaux Universitaires de Strasbourg, Strasbourg</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:E282B23AB7DB9C1C1E6836A552560F4C91E6BED2</idno><date when="2012" year="2012">2012</date><idno type="doi">10.1111/j.1399-0004.2011.01718.x</idno><idno type="url">https://api.istex.fr/document/E282B23AB7DB9C1C1E6836A552560F4C91E6BED2/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">006A11</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">006A11</idno><idno type="wicri:Area/Istex/Curation">006A11</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main">Fabry disease ‘The New Great Imposter’: results of the French Observatoire in Internal Medicine Departments (FIMeD)</title><author><name sortKey="Lidove, O" sort="Lidove, O" uniqKey="Lidove O" first="O" last="Lidove">O. Lidove</name><affiliation wicri:level="1"><mods:affiliation>Department of Internal Medicine, Université Paris 7, Hôpital Bichat Claude‐Bernard, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Internal Medicine, Université Paris 7, Hôpital Bichat Claude‐Bernard, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>E-mail: olivier.lidove@bch.aphp.fr</mods:affiliation><country wicri:rule="url">France</country></affiliation></author><author><name sortKey="Kaminsky, P" sort="Kaminsky, P" uniqKey="Kaminsky P" first="P" last="Kaminsky">P. Kaminsky</name><affiliation wicri:level="1"><mods:affiliation>Department of Internal Medicine, CHU de Nancy, Vandoeuvre les Nancy, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Internal Medicine, CHU de Nancy, Vandoeuvre les Nancy</wicri:regionArea></affiliation></author><author><name sortKey="Hachulla, E" sort="Hachulla, E" uniqKey="Hachulla E" first="E" last="Hachulla">E. Hachulla</name><affiliation wicri:level="1"><mods:affiliation>Department of Internal Medicine, Hôpital Claude Huriez, Université de Lille 2, Lille, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Internal Medicine, Hôpital Claude Huriez, Université de Lille 2, Lille</wicri:regionArea></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 wicri:level="1"><mods:affiliation>Department of Internal Medicine, CHU de Dijon, Dijon, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Internal Medicine, CHU de Dijon, Dijon</wicri:regionArea></affiliation></author><author><name sortKey="Lavigne, C" sort="Lavigne, C" uniqKey="Lavigne C" first="C" last="Lavigne">C. Lavigne</name><affiliation wicri:level="1"><mods:affiliation>Department of Internal Medicine and Gerontology, CHU Angers, Angers, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Internal Medicine and Gerontology, CHU Angers, Angers</wicri:regionArea></affiliation></author><author><name sortKey="Marie, I" sort="Marie, I" uniqKey="Marie I" first="I" last="Marie">I. Marie</name><affiliation wicri:level="1"><mods:affiliation>Department of Internal Medicine, CHU de Rouen, Rouen, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Internal Medicine, CHU de Rouen, Rouen</wicri:regionArea></affiliation></author><author><name sortKey="Maillot, F" sort="Maillot, F" uniqKey="Maillot F" first="F" last="Maillot">F. Maillot</name><affiliation wicri:level="1"><mods:affiliation>Department of Internal Medicine and Nutrition, CHRU de Tours, University François Rabelais, Tours, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Internal Medicine and Nutrition, CHRU de Tours, University François Rabelais, Tours</wicri:regionArea></affiliation></author><author><name sortKey="Serratrice, C" sort="Serratrice, C" uniqKey="Serratrice C" first="C" last="Serratrice">C. Serratrice</name><affiliation wicri:level="1"><mods:affiliation>Department of Internal Medicine, CHU Timone, Marseille, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Internal Medicine, CHU Timone, Marseille</wicri:regionArea></affiliation></author><author><name sortKey="Masseau, A" sort="Masseau, A" uniqKey="Masseau A" first="A" last="Masseau">A. Masseau</name><affiliation wicri:level="1"><mods:affiliation>Department of Internal Medicine, CHU de Nantes, Nantes, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Internal Medicine, CHU de Nantes, Nantes</wicri:regionArea></affiliation></author><author><name sortKey="Cherin, P" sort="Cherin, P" uniqKey="Cherin P" first="P" last="Chérin">P. Chérin</name><affiliation wicri:level="1"><mods:affiliation>Department of Internal Medicine, CHU Pitié‐Salpêtrière, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Internal Medicine, CHU Pitié‐Salpêtrière, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Cabane, J" sort="Cabane, J" uniqKey="Cabane J" first="J" last="Cabane">J. Cabane</name><affiliation wicri:level="1"><mods:affiliation>Department of Internal Medicine, Hôpital Saint Antoine, Université Paris 6, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Internal Medicine, Hôpital Saint Antoine, Université Paris 6, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Noel, E" sort="Noel, E" uniqKey="Noel E" first="E" last="Noel">E. Noel</name><affiliation wicri:level="1"><mods:affiliation>Department of Internal Medicine, Hôpitaux Universitaires de Strasbourg, Strasbourg, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Internal Medicine, Hôpitaux Universitaires de Strasbourg, Strasbourg</wicri:regionArea></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></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/Istex/Curation
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 006A11 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Istex/Curation/biblio.hfd -nk 006A11 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Sante
|area= LymphedemaV1
|flux= Istex
|étape= Curation
|type= RBID
|clé= ISTEX:E282B23AB7DB9C1C1E6836A552560F4C91E6BED2
|texte= Fabry disease ‘The New Great Imposter’: results of the French Observatoire in Internal Medicine Departments (FIMeD)
}}
| This area was generated with Dilib version V0.6.31. |  |