ReviewClinical and experimental gastroenterology2024
Obstacles to Early Diagnosis of Acute Hepatic Porphyria: Current Perspectives on Improving Early Diagnosis and Clinical Management.
Review in Clinical and experimental gastroenterology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
5 citing papers in PubMed, 4 citations in OpenAlex.
- Article
- Updates to gene-disease classifications and inheritance patterns for porphyrias.Molecular genetics and metabolism · 2026Article
- Article
- Features of Undiagnosed Abdominal Pain and Diagnostic Status of Acute Hepatic Porphyria in Japan: A Retrospective Study.International journal of medical sciences · 2025Observational
- Acute hepatic porphyrias.Porto biomedical journalReview
Corrections and comments
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Authors and funding
4 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Porphyrias are, for the most part, inherited disorders of the heme biosynthetic pathway which lead to accumulation of specific intermediates responsible for most of the symptoms and signs of biochemically active disease. Acute hepatic porphyrias usually come to clinical attention primarily in women in their reproductive years who present with episodic, severe, generalized abdominal pain. Such acute attacks may also be associated with tachycardia, systemic arterial hypertension, hyponatremia, recent history of dark reddish to brownish urine, and anxiety, delirium, and sensory or motor neuropathies. Diagnosing AHPs is often challenging, requiring a high index of suspicion and the appropriate testing showing elevated ALA and/or PBG in a random urine specimen. Obstacles to diagnosis include inappropriate testing for porphyrins only, inadequate sample handling, and ordering genetic testing as the initial diagnostic test. While some of these pitfalls in diagnosis are surmountable with current knowledge, others are in need of more research.
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Registered trials
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.