Document Detail

Hyperhidrosis: a new and often early symptom in Fabry disease. International experience and data from the Fabry Outcome Survey.
MedLine Citation:
PMID:  16939546     Owner:  NLM     Status:  MEDLINE    
Hypohidrosis is a classic feature of Fabry disease; in contrast, hyperhidrosis has only been rarely described. The aim of the study is to characterise the baseline descriptive data on hyperhidrosis (frequency, age at onset, sex ratio and outcome with and without enzyme replacement therapy) in hemizygous male and heterozygous female patients with Fabry disease. We describe case histories of five patients with Fabry disease and hyperhidrosis seen at three different centres. We have also analysed a cohort of 21 paediatric patients in the UK and a large European cohort of patients enrolled in the Fabry Outcome Survey (FOS). Five patients (three female, two male) with hyperhidrosis were originally identified, although each had additional symptoms related to Fabry disease. The age at onset of hyperhidrosis was less than 18 years in four cases. In the cohort of 21 paediatric patients (12 female, nine male), one female had hyperhidrosis; the age at onset of this symptom was 11 years. In the FOS cohort, 66 of 714 patients with Fabry disease had hyperhidrosis (44 of 369 females, 11.9%; 22 of 345 males, 6.4%). The female predominance was observed in seven of nine countries from which data were analysed. Hyperhidrosis is an increasingly recognised feature of the Fabry disease phenotype. It is more prevalent in females than in males and often appears in childhood or adolescence. The efficacy of enzyme replacement therapy on this recently recognised symptom should be assessed.
O Lidove; U Ramaswami; R Jaussaud; F Barbey; T Maisonobe; C Caillaud; M Beck; G Sunder-Plassmann; A Linhart; A Mehta;
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Publication Detail:
Type:  Case Reports; Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  International journal of clinical practice     Volume:  60     ISSN:  1368-5031     ISO Abbreviation:  Int. J. Clin. Pract.     Publication Date:  2006 Sep 
Date Detail:
Created Date:  2006-08-30     Completed Date:  2007-04-26     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9712381     Medline TA:  Int J Clin Pract     Country:  England    
Other Details:
Languages:  eng     Pagination:  1053-9     Citation Subset:  IM    
Department of Internal Medicine, Bichat Hospital, Paris, France.
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MeSH Terms
Age of Onset
Child, Preschool
Fabry Disease / complications*
Hyperhidrosis / etiology*
Middle Aged

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