Case report: Acute Intermittent Porphyria in a 21 year-old active duty male

Acute Intermittent Porphyria (AIP) is one of a group of rare metabolic disorders arising from reduced activity of any of the enzymes in the heme biosynthetic pathway. The porphyrias can be very difficult for the practitioner to understand. There are several types of porphyrias, which have been known by various different names and are classified from different perspectives1 based on where the defective synthesis site is, or what the clinical manifestations are. Since practitioners rarely encounter this disease process, it is commonly not considered in the differential diagnoses. AIP can be confused with other causes of acute abdominal disorders such as appendicitis with peritonitis or nephrolithiasis. Patients with AIP typically give a history of constipation, fatigue, irritability, and insomnia that precede their acute attack. Symptoms occur intermittently in some patients with acute attacks lasting for several days or longer and were usually followed by complete recovery. This case report deals with an initial presentation of AIP in an otherwise healthy 21-year-old active duty male Soldier. Clinical presentation, diagnosis and treatment are discussed as is a brief historical anecdote.