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