CHSU Discovery

Abstract

Acute Hepatic Porphyrias (AHP, Table 1) are rare inherited disorders caused by deficiencies in heme synthesis enzymes. Acute Intermittent Porphyria (AIP), the most common form, has a prevalence of approximately 1 in 20,000 and results from a deficiency of hydroxymethylbilane synthase (HMBS), also known as porphobilinogen deaminase. In AIP, accumulation of the neurotoxic intermediates δ-aminolevulinic acid (ALA) and porphobilinogen (PBG) leads to episodic attacks. These attacks produce a wide range of symptoms, including severe abdominal pain, muscle weakness, nausea, vomiting, anxiety, confusion, and irritability. Autonomic dysfunction, such as tachycardia, hypertension, and seizures, may also occur. Attacks are most common in women of reproductive age. Because symptoms are nonspecific, AHP is frequently misdiagnosed as gastrointestinal, neurological, or psychiatric disease, leading to unnecessary interventions. Early recognition is critical.