Background Erythromelalgia is rare and its clinical characteristics and response to therapy are still poorly defined.
Objectives To review our clinical experience of this rare condition and describe the clinical features and response to therapy.
Methods We performed a search of electronic medical records for patients with a diagnosis of erythromelalgia. We then attempted to contact patients by telephone to complete a structured questionnaire.
Results A total of 111 patients were identified, of whom 46 completed a telephone questionnaire. Mean age was 57 years and 41 of 46 were female. The mean time from symptom onset to diagnosis was 6 years, and the mean duration of symptoms was 16 years. 37 of 46 (80%) had Raynaud’s phenomenon for an average of 22 years. 4 of the patients had systemic sclerosis, 26 were current or previous smokers, 3 had exposure to chronic vibration. 22 of the patients described their symptoms as continuous, 24 as intermittent. Overall the effect on quality of life was mild in 7, moderate in 14, severe in 16 and 6 patients reported they were intolerant to any physical activity.
The symptoms affected the lower limbs in 45 (98%), upper limbs in 35 (76%), the face in 9 (20%) and the trunk in 5 (11%). The most common symptoms (n, out of 46) were of burning (44), heat (43), pain (40), redness (38), swelling (30) and numbness (25). Patients reported worsening with exercise (36), hot environments (39) and at night (35) and improvements with cooling (36) and elevation (24). Complications included infection in 3 and skin breakdown in 6 patients.
Blood tests showed mean Hb 13.6, platelets 285, ESR 10. ANA was positive in 7 patients, ENA in 2 patients, ANCA and dsDNA in no patients and complements were low in 5 patients. Intravenous iloprost was attempted in 27 patients and the response was marked in 5, moderate in 8, mild in 4 and there was no response in 10 patients. A wide variety of medications were tried. We list here all patients tried in at least five patients and the subjective record of efficacy.
Conclusions Erythromelalgia is a chronic debilitating condition which is usually present for years before diagnosis. Exercise, heat and night time are common triggers while cooling and elevation are often comforting. Current medical therapies are seldom effective and further research is sorely needed.
Disclosure of Interest None Declared