Evidence map›Paper›PMID 40485347›Full record

ArticleLiver international : official journal of the International Association for the Study of the Liver2025

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

Mohsen Merati, Nanditha Jayakumar, Yuvraaj Kapoor, Hetanshi Naik, Manisha Balwani, Karl E Anderson, Herbert L Bonkovsky, Robert J Desnick, Brendan McGuire, John Phillips and 2 more

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Article in Liver international : official journal of the International Association for the Study of the Liver, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

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0cells of the map it votes in
2citing papers in PubMed
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1 · What the graph read from it

What it found

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2 · The registry

The trial behind it

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Article
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4 · The record

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5 · Who and what money

Authors and funding

12 authors.

Mohsen MeratiDivision of Gastroenterology, Department of Medicine, University of California San Francisco, San Francisco, California, USA.ORCID 0000-0002-8101-9007
Nanditha JayakumarDivision of Gastroenterology, Department of Medicine, University of California San Francisco, San Francisco, California, USA.
Yuvraaj KapoorDivision of Gastroenterology, Department of Medicine, University of California San Francisco, San Francisco, California, USA.
Hetanshi NaikThe Porphyrias Consortium, New York, New York, USA.
Manisha BalwaniThe Porphyrias Consortium, New York, New York, USA.ORCID 0000-0001-8047-5011
Karl E AndersonThe Porphyrias Consortium, New York, New York, USA.
Herbert L BonkovskyThe Porphyrias Consortium, New York, New York, USA.
Robert J DesnickThe Porphyrias Consortium, New York, New York, USA.
Brendan McGuireThe Porphyrias Consortium, New York, New York, USA.
John PhillipsThe Porphyrias Consortium, New York, New York, USA.ORCID 0000-0003-1567-1678
D Montgomery BissellDivision of Gastroenterology, Department of Medicine, University of California San Francisco, San Francisco, California, USA.
Bruce WangDivision of Gastroenterology, Department of Medicine, University of California San Francisco, San Francisco, California, USA.ORCID 0000-0003-3486-5494

Funding

NIH HHS
6 · The paper itself

Abstract

BACKGROUND AND

aimsThis study aimed to characterise symptoms and assess the prevalence of elevated urine porphyrin precursors in first-degree relatives of acute hepatic porphyria (AHP) patients who have never experienced acute attacks and had no previous AHP genetic or biochemical testing.

methods149 first-degree relatives of confirmed AHP patients, previously unscreened for the family mutation, were recruited. All underwent genetic analysis, with 143 completing a study questionnaire and 118 undergoing urine analysis for delta aminolevulinic acid (ALA) and porphobilinogen (PBG). The questionnaire focused on symptoms, medical and family history, and quality of life.

resultsThe study included 79 AHP mutation carriers and 70 non-carriers. Carriers had significantly higher ALA (6.98 vs. 2.21 mg/g creatinine) and PBG levels (9.17 vs. 1.31 mg/g creatinine) than non-carriers. Female carriers showed higher ALA (9.29 vs. 3.07 mg/g creatinine) and PBG levels (12.71 vs. 3.16 mg/g creatinine) than male carriers. Porphyria-related symptoms were reported by 27% (21/77) of carriers compared to 15% (10/66) of non-carriers, with carriers more likely to report dark urine and prolonged symptoms. Finally, 30.8% of carriers were asymptomatic high excreters (ASHE) with PBG levels exceeding four times the upper limit of normal (ULN).

conclusionsSignificant differences in porphyrin precursor excretion and symptom profiles were found between AHP mutation carriers and controls, as well as between female and male carriers. Female carriers are more likely to excrete porphyrin metabolites above the normal range. A larger than expected number of undiagnosed carriers are ASHE with levels greater than four times the ULN.

Indexed as

Aminolevulinic AcidPorphobilinogenPorphyrias, HepaticPorphyrinsAdultAgedFemaleHeterozygoteHumansMaleMiddle AgedMutationPorphobilinogen SynthasePrevalenceProspective StudiesQuality of LifeAminolevulinic AcidPorphobilinogenPorphobilinogen SynthasePorphyrinsacute hepaticaminolevulinic acidgenetic carriersheme biosynthesismutationporphobilinogenporphyriaporphyrins

Identifiers

PMID40485347
PMCPMC12146827

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.