• S Deriaz, C Serratrice, O Lidove, E Noël, A Masseau, B Lorcerie, R Jaussaud, I Marie, C Lavigne, J Cabane, P Kaminsky, P Chérin, F Maillot, and pour le groupe de travail 'médecine interne-maladies rares'.
• CHRU, université de Tours, service de médecine interne, Tours, France.
• Rev Med Interne. 2019 Dec 1; 40 (12): 778-784.

IntroductionGaucher disease (GD) is a rare genetic lysosomal storage disorder caused by a beta-glucocerebrosidase deficiency and responsible for a lysosomal storage disorder. GD is characterized by haematological, visceral and bone involvements. The aim of this study was to describe the diagnostic journey of type 1 GD patients as well as the role of the internist.MethodsA retrospective multicentric study involving type 1 GD patients has been conducted in 16 centers, between 2009 and 2011.ResultsFifty-five type 1 GD patients were included, under the care of an internist or an haematologist. They were originally hospitalized in 8 different specialized units. Diagnosis was established by bone-marrow aspiration in 22 patients (40%), by enzymatic assay of glucocerebrosidase activity in 15 patients (27%), and by bone-marrow biopsy in 9 patients (16%). The use of enzymatic assay became more frequent after 1990. The delay between first hospitalization due to GD symptoms and definitive diagnosis was less than one year for 38 patients. Patients with suspected GD were mainly referred to an internist physician.ConclusionGD seems to be better recognized and quickly diagnosed since 1990 in spite of the multiplicity of journeys. The role of the internist seems important.Copyright © 2019 Société Nationale Française de Médecine Interne (SNFMI). Published by Elsevier Masson SAS. All rights reserved.

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