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Visualization and Analysis of Blood Flow and Oxygen Consumption in Hepatic Microcirculation: Application to an Acute Hepatitis Model
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Acute hepatic porphyrias.

Inês Marques1, Pedro Marcos2,3

  • 1Faculty of Health Sciences, University of Beira Interior, Covilhã, Portugal.

Porto Biomedical Journal
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PubMed
Summary
This summary is machine-generated.

Acute hepatic porphyrias (AHP) are rare genetic disorders causing debilitating neurovisceral attacks. Early diagnosis and management are crucial for preventing chronic complications and improving patient outcomes.

Keywords:
acute hepatic porphyriashemeheminliverporphyrias

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Area of Science:

  • Biochemistry
  • Genetics
  • Internal Medicine

Background:

  • Porphyrias are rare genetic disorders stemming from mutations in heme biosynthesis enzymes.
  • These mutations cause toxic porphyrin precursor accumulation, leading to diverse symptoms.
  • This review focuses on acute hepatic porphyrias (AHP), a subset of these conditions.

Purpose of the Study:

  • To review the current understanding of acute hepatic porphyrias (AHP).
  • To highlight diagnostic approaches and treatment strategies for AHP.
  • To emphasize the importance of recognizing AHP and managing its chronic complications.

Main Methods:

  • A comprehensive literature review was performed using MEDLINE via PubMed.
  • Systematic reviews, clinical trials, cohort studies, case-control studies, expert reviews, and guidelines were prioritized.
  • Analysis focused on understanding AHP presentation, diagnosis, and management.

Main Results:

  • Four types of AHP exist: acute intermittent porphyria, variegate porphyria, hereditary coproporphyria, and δ-aminolevulinic acid dehydratase deficiency porphyria.
  • AHP typically presents as neurovisceral attacks with severe abdominal pain, neuropsychiatric symptoms, or skin lesions, primarily affecting women aged 15-50.
  • Diagnosis involves biochemical tests (ALA, PBG, porphyrins) and genetic testing for definitive typing; treatment includes high-glucose diets, hemin, givosiran, and liver transplantation as a cure.
  • Chronic complications like hepatocellular carcinoma, kidney disease, and hypertension require monitoring.

Conclusions:

  • AHP remains underrecognized, necessitating consideration in patients with unexplained abdominal pain, neuropathy, psychiatric symptoms, or skin lesions.
  • Improved diagnostic techniques and novel therapeutic options are needed for effective AHP management.
  • Timely diagnosis and comprehensive management are essential to mitigate the impact of AHP and its associated chronic health issues.