A Prospective, Blinded Study of Symptom Prevalence and Specificity of Porphyrin Precursors in Carriers of Acute Hepatic Porphyria

Liver International, July 2025

Using data collected form the Longitudinal Study of the Porphyrias Consortium, this research examined symptom prevalence and urinary porphyrin precursor levels (ALA and PBG) in first-degree relatives of acute hepatic porphyria (AHP) patients who had no prior genetic or biochemical testing.

A significant proportion of AHP mutation carriers exhibit elevated urinary porphyrin precursors, with female carriers showing more pronounced biochemical abnormalities. A notable subset remains asymptomatic despite high precursor excretion, underlining the need for screening strategies to identify at-risk individuals and refine clinical monitoring.

Authors

Mohsen Merati, Nanditha Jayakumar, Yuvraaj Kapoor, Hetanshi Naik, Manisha Balwani, Karl E Anderson, Herbert L Bonkovsky, Robert J Desnick, Brendan McGuire, John Phillip, D Montgomery Bissell, Bruce Wang