Erythromelalgia

Introduction
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By Philip R Effraim MD PhD and Stephen G Waxman MD PhD

Erythromelalgia is also known as or subsumes Erythermalgia and Mitchell disease. -ed.

The authors have summarized erythromelalgia in this article. Discoveries of sodium channel mutations help our understanding of a variety of pain syndromes, including erythromelalgia. The authors further elaborate on its differential diagnosis, pathophysiology, and the current management options. Importantly, the role of aspirin in the diagnosis and management of secondary erythromelalgia has been emphasized.

Key points

  • Erythromelalgia is characterized by episodic vasodilation associated with severe burning pain in the extremities.
  • Primary erythromelalgia can be juvenile (onset before age 20) or sporadic.
  • Gain-of-function mutations of gene SCN9A (which encodes the Nav1.7 sodium channel) are present in many patients with primary erythromelalgia.
  • Secondary erythromelalgia often presents as a symptom of underlying disease. It is most often associated with myeloproliferative diseases; in these cases it can be remarkably responsive to treatment with aspirin.
  • Although many medications have been used for the treatment of erythromelalgia, the cornerstone of treatment is genetic counseling and avoidance of triggers.

 

In This Article

Introduction
Historical note and nomenclature
Clinical manifestations
Clinical vignette
Pathogenesis and pathophysiology
Epidemiology
Prevention
Differential diagnosis
Diagnostic workup
Prognosis and complications
Management
References cited
Contributors