Objective: To give a detailed characterization of pain in a large cohort of patients with Fabry disease.
Patients and methods: In this single-center, retrospective study we performed a detailed analysis of pain prevalence and characteristics of 132 patients with Fabry disease. Data were obtained by screening all medical records and using standardized extraction forms. Missing data were completed by telephone interviews.
Results: We show that men and women with Fabry disease frequently experience pain, mostly starting in early childhood. Pain is typically episodic with pain attacks being the predominant phenotype. The most frequent localization is in the distal extremities, the most often named pain quality is "burning." Fabry pain is triggerable by physical activity and thermal stimuli and improves over time. Frequently used acute pain medication consists of nonsteroidal antirheumatics and nonopioid analgesics. Long-term medications such as drugs used to treat neuropathic pain syndromes are rarely taken by Fabry patients.
Conclusions: Pain in Fabry disease affects both sexes and has a complex phenotype that requires comprehensive assessment. Current pain questionnaires fail to cover the entire scope of Fabry pain. Although basically neuropathic, some types of Fabry pain may respond to nonsteroidal antirheumatics and nonopioid analgesics.