Acute hepatic porphyria (AHP) refers to a group of rare, genetic diseases or porphyrias characterized by potentially life-threatening “attacks”. Some patients also experience chronic debilitating symptoms that will negatively impact their quality of life. AHP affects how the body makes a substance called “heme”. Heme helps blood carry oxygen to all parts of the body.
AHP encompass four diseases: acute intermittent porphyria (AIP, the most common), variegate porphyria (VP), hereditary coproporphyria (HCP), and ALAD-deficiency porphyria (ADP, extremely rare). Although these diseases are genetically distinct, they all result in overproduction of neurotoxic heme precursors called aminolevulinic acid (ALA) and porphobilinogen (PBG) which are produced when the liver makes heme. When ALA and PBG are released in the body they are harmful to nerve cells and have been associated with the symptoms and attacks of AHP.