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Natural history of erythromelalgia: presentation and outcome in 168 patients.

OBJECTIVE: To describe the demographics, presentation, and outcome in patients with erythromelalgia--a rare and poorly understood clinical syndrome defined by the triad of red, hot, painful extremities.

DESIGN: Retrospective medical record review with follow-up by survey questionnaire.

SETTING: Large tertiary care medical center.

SUBJECTS: Patients with erythromelalgia examined at the Mayo Clinic, Rochester, 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 recent information in the medical record from patients still alive and death certificates 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%) were 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. Symptoms 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 decrease 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, 1.3-20 years), 30 patients (31.9%) reported worsening of, 25 (26.6%) no change in, 29 (30.9%) improvement in, and 10 (10.6%) complete resolution of the symptoms. 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 mortality and morbidity compared with the US general population.

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