• Karl E Anderson, Raynah Lobo, Denise Salazar, Mary Schloetter, Gary Spitzer, Amy L White, Randolph M Young, Herbert L Bonkovsky, Elizabeth L Frank, Jordanna Mora, and Silvia Tortorelli.
• University of Texas Medical Branch, Galveston, TX, USA. Electronic address: kanderso@utmb.edu.
• Am. J. Med. Sci. 2021 Aug 1; 362 (2): 113-121.

AbstractAcute hepatic porphyria (AHP) is a group of rare, metabolic diseases where patients can experience acute neurovisceral attacks, chronic symptoms, and long-term complications. Diagnostic biochemical testing is widely available and effective, but a substantial time from symptom onset to diagnosis often delays treatment and increases morbidity. A panel of laboratory scientists and clinical AHP specialists collaborated to produce recommendations on how to enhance biochemical diagnosis of AHP in the USA. AHP should be considered in the differential diagnosis of unexplained abdominal pain, the most common symptom, soon after excluding common causes. Measurement of porphobilinogen (PBG) and porphyrins in a random urine sample, with results normalized to creatinine, is recommended as an effective and cost-efficient initial test for AHP. Delta-aminolevulinic acid testing may be included but is not essential. The optimal time to collect a urine sample is during an attack. Substantial PBG elevation confirms an AHP diagnosis and allows for prompt treatment initiation. Additional testing can determine AHP subtype and identify at-risk family members. Increased awareness of AHP and correct diagnostic methods will reduce diagnostic delay and improve patient outcomes.Copyright © 2021 The Authors. Published by Elsevier Inc. All rights reserved.

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