Acute hepatic porphyrias

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.