About Erythromelalgia

What is Erythromelalgia?

Erythromelalgia (also known as Mitchell's disease) is a rare neurovascular disorder characterized by episodes of burning pain, redness (erythema), and increased skin temperature, primarily affecting the extremities.

The name comes from Greek: erythros (red) + melos (limb) + algos (pain).

Symptoms

Classic symptoms include:

  • Burning pain: Often severe, typically in the feet and hands
  • Redness (erythema): Visible red discoloration of affected areas
  • Increased warmth: Skin feels hot to the touch
  • Swelling: May occur in some cases

Symptoms are often triggered by warmth, exercise, standing, or alcohol consumption, and may be relieved by cooling or elevation of the affected limb.

Types of Erythromelalgia

Primary Erythromelalgia

Occurs without an underlying condition. May be:

  • Familial: Inherited, often due to mutations in the SCN9A gene (encoding Nav1.7 sodium channel)
  • Sporadic: No family history or identified genetic cause

Secondary Erythromelalgia

Associated with underlying conditions such as:

  • Myeloproliferative disorders (polycythemia vera, essential thrombocythemia)
  • Autoimmune diseases (lupus, rheumatoid arthritis)
  • Medications (calcium channel blockers, bromocriptine)
  • Neuropathy
  • Other conditions

Pathophysiology

The exact mechanisms are not fully understood, but research suggests:

  • Sodium channel dysfunction: Mutations in SCN9A cause hyperexcitability of sensory neurons and vascular smooth muscle
  • Microvascular abnormalities: Altered blood flow regulation and arteriovenous shunting
  • Neural sensitization: Small fiber neuropathy and peripheral sensitization

Diagnosis

Diagnosis is primarily clinical, based on:

  • Characteristic symptoms (burning pain, redness, warmth)
  • Symptom triggers (heat, exercise, dependency)
  • Symptom relief with cooling
  • Physical examination during episodes

Additional testing may include:

  • Blood tests (to rule out secondary causes)
  • Genetic testing (SCN9A mutations in familial cases)
  • Skin biopsy (small fiber neuropathy assessment)
  • Thermography

Epidemiology

Erythromelalgia is rare, with an estimated prevalence of:

  • 1-2 per 100,000 people
  • Onset typically in adolescence or middle age
  • Slightly more common in females (1.5:1 ratio)

Resources for Patients & Clinicians

This website provides:

Important: This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any questions about your medical condition or treatment options.