Fibromyalgia and Gaucher's disease

Area of Science:

• Medical research
• Genetics and rare diseases
• Pain management

Background:

• Symptomatic Gaucher's disease can present with non-specific musculoskeletal pain unresponsive to enzyme replacement therapy (ERT).
• These symptoms may indicate co-existing fibromyalgia syndrome (FMS).
• Identifying FMS in Gaucher's patients could guide more appropriate therapeutic strategies.

Purpose of the Study:

• To identify adult patients with Gaucher's disease who exhibit criteria for fibromyalgia.
• To explore the potential benefit of fibromyalgia-specific therapies in this patient cohort.

Main Methods:

• A questionnaire-based survey was administered to adult patients with non-neuronopathic Gaucher's disease (n=109) and healthy controls (n=108).
• Participants completed the Fibromyalgia Impact Questionnaire.
• Sensitivity was assessed at 22 tender points using a dolorimeter.

Main Results:

• Six Gaucher's disease patients met the fibromyalgia criteria, while no controls did.
• Fibromyalgia patients had a significantly higher incidence of co-morbidities compared to other Gaucher's patients (p=0.014).
• Among the six, four with fibromyalgia had bone involvement and were on ERT; two were untreated.

Conclusions:

• The presence of fibromyalgia in Gaucher's disease may stem from various causes or be an independent predisposition.
• Distinguishing the exact etiology remains unclear.
• If FMS is the primary cause of symptoms, ERT may be an inappropriate and costly treatment.