Primary erythromelalgia

Primary Erythromelalgia is a rare neurovascular disorder that results in severe burning pain, redness, and heat in the extremities. The condition is often idiopathic, meaning it arises spontaneously or from an obscure or unknown cause.

Symptoms

The primary symptoms of erythromelalgia are episodes of erythema, swelling, a sensation of warmth, and a burning pain. These symptoms are often symmetric and affect the lower extremities more than the upper extremities. Symptoms may be episodic or almost continuous, and are often triggered or worsened by warmth or exercise and relieved by cold.

Causes

Primary erythromelalgia is typically idiopathic, meaning it arises spontaneously or from an obscure or unknown cause. However, some cases have been linked to mutations in the SCN9A gene, which encodes a voltage-gated sodium channel (Nav1.7) that is involved in pain perception.

Diagnosis

Diagnosis of primary erythromelalgia can be challenging, as the symptoms can mimic those of other conditions. The diagnosis is typically based on the patient's clinical symptoms and history. In some cases, a skin biopsy or other tests may be performed to rule out other conditions.

Treatment

Treatment for primary erythromelalgia is typically aimed at managing symptoms. This may include the use of medications to reduce pain and inflammation, as well as lifestyle modifications such as avoiding triggers and using cooling measures.

See also

• Secondary erythromelalgia
• Pain management
• Neurovascular disorders