ACUTE INTERMITTENT PORPHYRIA

Course overview

ACUTE INTERMITTENT PORPHYRIA IS A RARE AUTOSOMAL DOMINANT DISEASE CHARACTERIZED BY A DEFICIENCY OF HYDROXYMETHYLBILANE SYNTHASE (HMBS). IT PRESENTS WITH ABDOMINAL PAIN, NAUSEA, VOMITING, PERIPHERAL NEUROPATHY, AND SEIZURES. TREATMENT FOR ACUTE ATTACKS IS INTRAVENOUS HEME. DEFINITIVE TREATMENT IS AN ORTHOTOPIC LIVER TRANSPLANT. THIS ACTIVITY GIVES AN OVERVIEW OF THE ETIOLOGY, CLINICAL PRESENTATION, EVALUATION, MANAGEMENT, AND TREATMENT OF THE DISEASE BY AN INTERPROFESSIONAL TEAM.