Expert Consensus on the Diagnosis and Treatment of Acute Intermittent Porphyria in China (2024)

Acute intermittent porphyria (AIP) is a rare autosomal dominant disorder caused by reduced activity of hydroxymethylbilane synthase (HMBS), or porphobilinogen deaminase (PBGD), the third enzyme in the heme biosynthesis pathway, with very low penetrance. AIP mainly affects women and is triggered by various factors, leading to acute neurovisceral symptoms such as abdominal pain, nausea and vomiting, intestinal obstruction, constipation, and in severe cases, epilepsy, weakness of the limbs, and psychiatric disturbances. Recurrent attacks may result in chronic injuries. Due to nonspecific symptoms and limited clinical awareness, AIP is often misdiagnosed, contributing to high morbidity and mortality. To standardize diagnosis and treatment practices, the Chinese Society of Rare Diseases, in collaboration with the Study Group of Endocrinology Rare Diseases, the Chinese Society of Endocrinology, and the Chinese Pharmacists Association Rare Diseases Medication Working Committee, developed the Expert Consensus on the Diagnosis and Treatment of Acute Intermittent Porphyria in China (2024). This consensus was based on a review of 116 relevant studies, with a professional panel of 27 experts using the Delphi method to reach agreement on 23 key recommendations, aiming to guide standardized clinical practice in the diagnosis, treatment, evaluation, and prevention of AIP.