Evidence map›Paper›PMID 41287633›Full record

ReviewPorto biomedical journal

Acute hepatic porphyrias.

Inês Marques, Pedro Marcos

Abstract readReview
In one paragraph

Review in Porto biomedical journal. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

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.

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
  2. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

2 authors.

Inês MarquesFaculty of Health Sciences, University of Beira Interior, Covilhã, Portugal.ORCID https://orcid.org/0009-0005-6541-1163
Pedro MarcosDepartment of Gastroenterology, Pêro da Covilhã Hospital, Covilhã, Portugal.ORCID https://orcid.org/0000-0002-0367-1702

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Porphyrias are rare genetic disorders caused by heme biosynthesis pathway enzyme mutations, leading to porphyrin precursors build up in various tissues and diverse symptoms. This review centers on acute hepatic porphyrias (AHP). Methods: A MEDLINE through PubMed database literature review was conducted. Systematic reviews, clinical trials, cohort studies, case-control studies, expert reviews, and guidelines were preferred for analysis. Results: There are 4 types of AHP: acute intermittent porphyria, variegate porphyria, hereditary coproporphyria, and δ-aminolevulinic acid dehydratase deficiency porphyria. These conditions primarily present as neurovisceral attacks, characterized by severe abdominal pain, neuropsychiatric symptoms, or skin lesions, predominantly affecting women aged 15 to 50 years. The diagnostic methods include biochemical tests that assess urinary levels of aminolevulinic acid and porphobilinogen. In addition, measuring porphyrin levels in urine or feces can provide more insights into the type of AHP; however, a definitive diagnosis of the specific type is made through genetic testing. Treatment involves high-glucose diets, intravenous hemin for acute attacks, and givosiran for the prophylaxis of frequent attacks. Liver transplantation remains the only curative option. It is crucial to monitor chronic complications associated with hepatic porphyrias, particularly hepatocellular carcinoma, kidney disease, and arterial hypertension. Conclusion: AHP continues to be an underrecognized condition, warranting consideration in individuals experiencing unexplained abdominal pain, neuropathy, psychiatric symptoms, or skin lesions. There is a need for improved diagnostic techniques and treatment options.

Indexed as

acute hepatic porphyriashemeheminliverporphyrias

Identifiers

PMID41287633
PMCPMC12637354

What Socratic holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

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 Socratic graph.