ReviewTranslational gastroenterology and hepatology2021
The acute hepatic porphyrias.
Review in Translational gastroenterology and hepatology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
20 citing papers in PubMed, 27 citations in OpenAlex.
- Long-term follow-up of givosiran treatment in patients with acute intermittent porphyria from a phase 1/2, 48-month open-label extension study.Orphanet journal of rare diseases · 2024Trial
- Adverse events of givosiran in the treatment of acute hepatic porphyria: a pharmacovigilance study using the FAERS and VigiAccess databases.Orphanet journal of rare diseases · 2026Article
- Hepatic Porphyria Presenting with Persistent Abdominal Pain: A Case Report and Literature Review.Iranian journal of pathology · 2026Article
- Recommendations for recognizing and diagnosing Acute Hepatic Porphyria in atypical patient populations.Orphanet journal of rare diseases · 2025Article
- A Prospective, Blinded Study of Symptom Prevalence and Specificity of Porphyrin Precursors in Carriers of Acute Hepatic Porphyria.Liver international : official journal of the International Association for the Study of the Liver · 2025Article
- Pharmaceutical perspectives on oligonucleotide therapeutics and delivery systems.Pharmacological reviews · 2025Review
- Acute hepatic porphyria in Denmark; a retrospective study.Orphanet journal of rare diseases · 2025Article
- Advancing Therapeutic Strategies with Polymeric Drug Conjugates for Nucleic Acid Delivery and Treatment.International journal of nanomedicine · 2025Review
- Article
- Targeting the Liver with Nucleic Acid Therapeutics for the Treatment of Systemic Diseases of Liver Origin.Pharmacological reviews · 2023Review
- Review
- Article
- A Medical Conundrum in a Surgical Setting: Lessons Learned From an Atypical Case of Hyponatremia.Cureus · 2022Article
- Time is of the Essence: Using Extended Hemin Treatment for a Case of Severe Acute Intermittent Porphyria.ACG case reports journal · 2022Article
- Mechanistic modelling of enzyme-restoration effects of new recombinant liver-targeted proteins in acute intermittent porphyria.British journal of pharmacology · 2022Article
- Long-term follow-up of acute porphyria in female patients: Update of clinical outcome and life expectancy.Molecular genetics and metabolism reports · 2022Article
- Biomarkers that predict attacks of acute intermittent porphyria.Translational gastroenterology and hepatology · 2022Article
- Significance of Heme and Heme Degradation in the Pathogenesis of Acute Lung and Inflammatory Disorders.International journal of molecular sciences · 2021Review
- Rare and undiagnosed liver diseases: challenges and opportunities.Translational gastroenterology and hepatology · 2021Article
- Acute hepatic porphyrias.Porto biomedical journalReview
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
Abstract
The acute hepatic porphyrias (AHP) are a group of four inherited diseases of heme biosynthesis. They present with similar severe, episodic, acute neurovisceral symptoms due to abnormally elevated levels of porphyrin precursors delta-aminolevulinic acid (ALA). Recently genetic screening indicates that the prevalence of mutation carrier state is more common than previously thought, occurring in 1 in 1,500, though the clinical penetrance of symptomatic AHP is low at ~1%. Symptomatic attacks occur primarily in females during their reproductive years. In an acute porphyria attack, the primary symptom is abdominal pain, due to intestinal dysmotility from autonomic nerve injury. Other manifestations include seizures, weakness and mood changes, point to injury involving peripheral and central nervous system. Due to the non-specific nature of the symptoms and signs in AHP, the diagnosis is often delayed by many years. The diagnosis of AHP depends on biochemical evidence of elevated ALA and PBG levels in urine during symptomatic attacks. Genetic testing is used for confirmation of the gene involved and the exact mutation. Treatment involves administration of heme, which downregulates production of ALA. Long-term management centers on educating genetic carriers on avoiding triggers that increase the risk of acute attacks and screening family members.
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What OpenQuestion holds
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.