Doctors et. al…
Your input is greatly appreciated….
A 49-year-old female presented with a 47-year history of chronic intermittent painful skin redness and swelling of both feet and lower legs. Her problem began as a youngster when she started to walk with frequent episodes of severe pain in the lower legs and feet with associated erythema, edema and warmth.
She was diagnosed as having sporadic primary erythromelalgia caused by mutation of the voltage-gated sodium channel α-subunit gene SCN9A.
Her symptoms have escalated in frequency and severity since puberty and with onset of menopause, evolving into constant erythema and warmth of the lower extremities with associated severe piercing disabling pain.
The chest X-ray, ECG, ECHO and pulmonary function tests were normal. Autonomic reflex screen testing including heart rate responses and quantitative sudomotor axon reflex test (QSART) revealed evidence of generalized postganglionic sudomotor and mild adrenergic vasomotor dysfunction likely consistent with diffuse small fiber neuropathy. Thermoregulatory sweat testing revealed generalized anhydrosis.
Lower extremity amputation due to local hypoxia was averted with Hyperbaric Treatment. Nerve clamping, ablation, medtronic pump were tried but with limited success.
It has been a big challenge to manage her symptoms with vasoactive drugs including β-blockers, magnesium, prostaglandin E1, iloprost (prostacyclin analog), ergot alkaloids, and neuroactive drugs including SSRIs, tricyclic antidepressants, gabapentin, pregabalin and benzodiazepines, NSAIDs and other types of analgesics like Ketamine and narcotics, along with other therapies including acupuncture, biofeedback, hypnosis, and magnets.
Thank you for your thoughts and expertise.
Tuan Tran, R.Ph., A.P.P.
.