Pathophysiology, Pharmacology and Treatment of Acute Intermittent Porphyria: A Patient Case Description and Recommendations from the Current Literature

Acute intermittent porphyria (AIP) is a rare and potentially life-threatening metabolic disorder. It is characterized by an autosomal dominant enzymatic deficiency in porphobilinogen deaminase, which is a critical enzyme in the heme biosynthesis pathway. This deficiency leads to an overproduction of porphyrin precursors that can lead to acute attacks that can be severe and affect overall quality of life. These attacks can be precipitated by factors such as medications, nutritional changes, infection and environmental exposures. Liver transplantation is a potential cure for patients who have evidence of end-stage liver disease or are experience multiple life-threatening attacks. This article presents the case of a patient with AIP, who was successfully treated with liver transplantation. The article also provides a review of the epidemiology/pathophysiology of AIP, and its diagnosis and precipitating factors leading to exacerbation of symptoms, as well as its treatment options, with an emphasis on use of liver transplantation to achieve cure.