Porphyrias are a group of rare, most often inherited, disorders caused by a defect in the pathway that makes heme in your body. Heme, a cofactor, is a nonprotein part of hemoglobin, which is responsible for transporting oxygen in blood, and is required for the normal function of some proteins in the liver. The types of porphyria are often grouped into those that predominantly affect the nerves and those that primarily affect the skin. Effects on nerves can occur in the acute hepatic porphyrias (AHP)—acute intermittent porphyria (AIP), variegate porphyria (VP), hereditary coproporphyria (HCP), and ALAD-Deficient Porphyria (ADP)—which are characterized by episodes of debilitating attacks.
Approximately 5,000 affected individuals in the United States and Europe experience acute porphyria attacks annually, and approximately 1,000 people are impacted by recurrent debilitating attacks. Currently, there is no approved treatment available to prevent recurrent attacks. Common treatment approaches for AHP include carbohydrate loading, intravenous (IV) glucose, and IV hemin, which can be administered during an attack or sometimes between attacks (prophylactically). However, hemin is not currently approved for the prophylactic treatment of AHP and has limitations.
What are the symptoms of acute hepatic porphyria?
Affected individuals often experience some combination of the following symptoms: