ACUTE HEPATIC PORPHYRIA

Course overview

HEPATIC PORPHYRIAS ARE GENETIC DISORDERS CAUSED BY THE DEFECT IN AN ENZYME INVOLVED IN HEME SYNTHESIS AND ACCUMULATION OF HEME PRECURSORS. HEPATIC PORPHYRIAS INCLUDE ACUTE INTERMITTENT PORPHYRIA, VARIEGATE PORPHYRIA, AMINOLEVULINIC ACID DEHYDRATASE DEFICIENCY PORPHYRIA, HEREDITARY COPROPORPHYRIA, AND PORPHYRIA CUTANEA TARDA. THE ACUTE HEPATIC PORPHYRIAS ARE MANIFEST AS NEUROLOGICAL ATTACKS (SEIZURES, PSYCHOSIS, SEVERE ABDOMINAL AND BACK PAIN, AND ACUTE POLYNEUROPATHY) AND, TO A LESSER EXTENT, WITH CUTANEOUS MANIFESTATIONS SUCH AS PHOTOSENSITIVE BLISTERING RASH OR HYPERTRICHOSIS. THIS ACTIVITY REVIEWS THE PATHOPHYSIOLOGY, EVALUATION, AND MANAGEMENT OF ACUTE HEPATIC PORPHYRIAS AND HIGHLIGHTS THE ROLE OF THE INTERPROFESSIONAL TEAM IN CARING FOR PATIENTS AFFECTED BY THESE CONDITIONS.