Clinical practice and cases in emergency medicine •
A 37-year-old man with severe obstructive sleep apnea presented to the emergency department with burning pain, redness and swelling in his hands and feet, worsening for several weeks. Pertinent laboratory studies revealed polycythemia. Erythromelalgia is a clinical diagnosis characterized by painful burning, erythema, warmth, and edema usually involving the distal extremities. Therapeutic goals are focused on symptom reduction, while also managing the underlying condition in cases of secondary erythromelalgia. Pharmacological and non-pharmacological therapies have proven to be of limited success.
A 41-year-old woman presented with burning and erythema in her extremities triggered by warmth and activity, which was relieved by applying ice. Extensive workup was consistent with adult-onset primary erythromelalgia (EM). Several pharmacological treatments were tried including local anesthetics, capsaicin, ziconotide, and dantrolene, all providing 24-48 hours of relief followed by symptom flare. Interventional therapies, including peripheral and sympathetic ganglion blocks, also failed. Thus far, clonidine and ketamine have been the only effective agents for our patient. Genetic testing was negative for an EM-associated mutation in the gene, encoding the Na1.7 sodium channel, suggesting a mutation in an alternate gene.
