OBSOLETE: Erythromelalgia

Erythromelalgia (also known as erythermalgia, Mitchell disease, or Weir-Mitchell disease) is a rare vascular disorder characterized by episodic burning pain, warmth, and redness (erythema) primarily affecting the extremities, most commonly the feet and hands. Episodes are typically triggered by warmth, exercise, or dependent positioning of the limbs, and patients often seek relief by cooling the affected areas, such as immersing them in cold water. The condition primarily affects the peripheral vascular and nervous systems. Erythromelalgia can be classified as primary (idiopathic or inherited) or secondary. Primary inherited erythromelalgia is caused by gain-of-function mutations in the SCN9A gene, which encodes the Nav1.7 voltage-gated sodium channel expressed in sensory and sympathetic neurons. Secondary erythromelalgia may occur in association with myeloproliferative disorders (especially polycythemia vera and essential thrombocythemia), autoimmune conditions, or other underlying diseases. The severity of symptoms varies widely among affected individuals, ranging from mild discomfort to debilitating pain that significantly impairs quality of life. Treatment remains challenging and largely symptomatic. For secondary erythromelalgia associated with myeloproliferative disorders, low-dose aspirin can be highly effective. For primary forms, management may include topical or oral medications such as lidocaine, gabapentin, carbamazepine, or other sodium channel blockers, though responses are variable. Cooling measures and avoidance of triggers are commonly employed supportive strategies. Note: This Orphanet entry (code 1956) is marked as OBSOLETE, suggesting it may have been merged or reclassified within the Orphanet nomenclature.

Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Source: openFDA + DailyMed · NDA / BLA labels with structured indications · refreshed weekly

Source: ClinicalTrials.gov · synced daily · phases, status, and PI names normalized at ingest

Source: NPI Registry + PubMed · trial PI roles cross-referenced with ClinicalTrials.gov · ranked by match score (publications + PI activity + community signal)

Source: NORD Rare Disease Centers + NIH Undiagnosed Diseases Network (UDN) · centers verified active within last 12 months

Source: PubMed + NIH RePORTER + openFDA + clinical-journal RSS · last 30 days · disease-tagged at ingest by AI extraction with human QC

Common questions about OBSOLETE: Erythromelalgia