erythromelalgia (erythermalgia)

Introduction

Episodic bilateral painful vasodilation & erythema. The antithesis of Raynaud's disease

Etiology

• idiopathic, genetic
• associated with:
  • warm temperature
  • exercise
  • myeloproliferative disease
    • polycythemia vera
  • thrombocytosis
    • essential thrombocythemia
  • hypertension
  • hemiplegia
  • multiple sclerosis
  • tabes dorsalis
  • dementia paralytica
  • autoimmune disease
  • pregnancy
  • vasodilators

Epidemiology

• up to 28% of patients with polycythemia vera

Genetics

• may be associated with mutations in SCN9A gene
• autosomal dominant form(s)

Clinical manifestations

• episodic presentation
• bilateral extremity distribution
• localized burning of the skin on the extremities including palms & soles
  • exacerbated by warm temperatures &/or fever
  • ameliorated by cool temperatures
• vasodilation
  • swelling
  • warmth
  • erythema, pallor or cyanosis
  • perspiration
  • burning pain
• symptoms aggravated by dependent position

Management

• symptoms attenuated by aspirin
• normalizing thrombocytosis with chemotherapy

More general terms

• genetic disease of blood vessels
• sign/symptom

Additional terms

• Raynaud's phenomenon

Database

• OMIM: https://mirror.omim.org/entry/133020