Distal extremity pain as a presenting feature of Fabry's disease




Fabry's disease (FD) is an X-linked lysosomal storage disease. Distal extremity pain can be an early finding and renal, cardiac, and cerebrovascular complications may lead to complications and mortality. Treatment is now available for these patients, who may not be diagnosed correctly for years if the neuropathic nature of the pain is not recognized. The aim of our study was to describe early clinical features in a cohort of patients with FD and to emphasize the importance of distal extremity pain for early diagnosis.


The medical charts of 35 patients with FD followed in a single center were reviewed. When data were incomplete, a detailed pain questionnaire was sent to patients. Nonresponders were contacted by telephone.


Distal extremity pain was present in the majority of cases (25 of 35). The mean age at diagnosis of FD was 43.5 years (range 5–77 years). Distal extremity pain was more prevalent in males than females and occurred mostly in childhood or adolescence. When present at onset, the disease progressed with subsequent organ system involvement. Misdiagnoses were frequent and included growing pains, juvenile idiopathic arthritis, connective tissue disease, and gout.


Clinical manifestations of FD, including episodes of severe pain in the feet and hands, often start in childhood. Distal extremity pain may be the only symptom for a considerable period of time. Patients may be wrongly labeled as having rheumatologic conditions, resulting in long diagnostic and therapeutic delays. Rheumatologists should be aware of the clinical aspects of FD and include it in the differential diagnosis of distal extremity pain in childhood and adolescence.