Natural history of erythromelalgia - Presentation and outcome in 168 patients

Qbjective: To describe the demographics, presentation, and outcome in patie nts with erythromelalgia-a rare and poorly understood clinical syndrome def ined by the triad of red, hot, painful extremities. Design: Retrospective medical record review with follow-up by sun ey questi onnaire. Setting: Large tertiary care medical center. Subjects: Patients with erythromelalgia examined at the Mayo Clinic, Roches ter, Minn, between 1970 and 1994. Intervention: The medical records of 168 patients were analyzed. Follow-up data, which consisted of answers to 2 survey questionnaires or the most rec ent information in the medical record from patients still alive and death c ertificates or reports of death for those deceased patients, were obtained for all but 13 patients. Main Outcome Measures: Survival, morbidity, and quality of life. Results: All patients were white; 122 (72.6%) were female, and 46 (27.4%) w ere male. At presentation, the patients' mean age was 55.8 years (age range , 5-91 years). Symptoms had been present since childhood in 7 patients (4.2 %). Six patients (3.6%) had a first-degree relative with erythromelalgia. S ymptoms were intermittent in 163 patients (97.0%) and constant in 5 (3.0%). Symptoms predominantly involved feet (148 patients [88.1%]) and hands (43 patients [25.6%]). Kaplan-Meier survival curves revealed a significant decr ease in survival compared with that expected in persons of similar age and of the same sex (P<.001). After a mean follow-up of 8.7 years (range, 1.3-2 0 years), 30 patients (31.9%) reported worsening of, 25 (26.6%) no change i n, 29 (30.9%) improvement in, and 10 (10.6%) complete resolution of the sym ptoms. On a standard health status questionnaire, scores for all but one of the health domains were significantly diminished in comparison with those in the US general population. Conclusion: Erythromelalgia is a syndrome with significantly increased mort ality and morbidity compared with the US general population.