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QJM Advance Access originally published online on November 17, 2005
QJM 2006 99(2):103-107; doi:10.1093/qjmed/hci147
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© The Author 2005. Published by Oxford University Press on behalf of the Association of Physicians. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Fibromyalgia and Gaucher's disease

A. Brautbar1, D. Elstein1, B. Pines1, N. Krienen1, J. Hemmer1, D. Buskila2 and A. Zimran1

From the 1Gaucher Clinic, Shaare Zedek Medical Center, Jerusalem and 2Department of Medicine B, Soroka Medical Centre, Beer Sheva, Israel

Address correspondence to Professor A. Zimran, Gaucher Clinic, Shaare Zedek Medical Center, PO Box 3235, Jerusalem 91031, Israel. email: gaucher{at}szmc.org.il

Received 17 August 2005 and in revised form 16 October 2005

Background: Patients with symptomatic Gaucher's disease sometimes have non-specific symptoms (such as general malaise with widespread musculoskeletal pains) that respond poorly to enzyme replacement treatment. These may indicate fibromyalgia syndrome; if so, other therapeutic options might be more appropriate.

Aim: To identify patients with Gaucher's disease for whom fibromyalgia-specific therapy may be therapeutic.

Design: Questionnaire-based survey.

Methods: Adult patients (n = 109) with non-neuronopathic Gaucher's disease and adult healthy controls (n = 108) completed health-related questionnaires including the Fibromyalgia Impact Questionnaire, and underwent testing with a dolorimeter to ascertain sensitivity at 22 tender points.

Results: Six patients, but no controls, met the criteria for fibromyalgia. Patients with fibromyalgia had a significantly greater incidence of co-morbidities (p = 0.014) relative to other patients with Gaucher's disease; four suffered from bone involvement and were receiving enzyme therapy, but two were untreated.

Discussion: The presence of fibromyalgia-specific trigger points may result from multiple aetiologies, or may be an independently-sorting predisposition. Our findings cannot distinguish between these possibilities, but if fibromyalgia were the cause, enzyme replacement therapy would be expensive and inappropriate.


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