ArticleMolecular genetics and metabolism2016
Experiences and concerns of patients with recurrent attacks of acute hepatic porphyria: A qualitative study.
Article in Molecular genetics and metabolism, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers, 1 of them a synthesis that pooled it.
What it found
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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
43 citing papers in PubMed, 1 synthesis or guideline pooled it, 88 citations in OpenAlex.
- AGA Clinical Practice Update on Diagnosis and Management of Acute Hepatic Porphyrias: Expert Review.Gastroenterology · 2023Guideline
- 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
- Disease burden in patients with acute hepatic porphyria: experience from the phase 3 ENVISION study.Orphanet journal of rare diseases · 2022Trial
- Efficacy and safety of givosiran for acute hepatic porphyria: 24-month interim analysis of the randomized phase 3 ENVISION study.Liver international : official journal of the International Association for the Study of the Liver · 2022Trial
- 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
- Liver transplantation and primary liver cancer in porphyria.Liver international : official journal of the International Association for the Study of the Liver · 2025Review
- Patient experience with acute hepatic porphyria before and after long-term givosiran treatment in a qualitative interview study.Molecular genetics and metabolism reports · 2025Article
- Practical Recommendations in the Treatment of Acute and Chronic Life-Threatening Infectious Diseases in Patients with Acute Hepatic Porphyria.Metabolites · 2025Review
- Reducing diagnostic delays in acute hepatic porphyria using health records data and machine learning.Journal of the American Medical Informatics Association : JAMIA · 2025Article
- Effects of internet-based health education on patients with acute intermittent porphyria.Orphanet journal of rare diseases · 2024Article
- Clinical features of acute attacks, chronic symptoms, and long-term complications among patients with acute hepatic porphyria in Japan: a real-world claims database study.Orphanet journal of rare diseases · 2023Article
- Article
- Brazilian registry of patients with porphyria: REBRAPPO study.Orphanet journal of rare diseases · 2023Article
- Article
- Genetic analysis of acute intermittent porphyria caused by novel classical splicing variant in the insertion region of 29-residue specific to humanFrontiers in molecular biosciences · 2023Article
- Clinical features of Japanese patients with acute hepatic porphyria.JIMD reports · 2023Article
- Mortality in Pedigrees with Acute Intermittent Porphyria.Life (Basel, Switzerland) · 2022Article
- EXPLORE B: A prospective, long-term natural history study of patients with acute hepatic porphyria with chronic symptoms.Journal of inherited metabolic disease · 2022Article
- Therapy Follows Diagnosis: Old and New Approaches for the Treatment of Acute Porphyrias, What We Know and What We Should Know.Diagnostics (Basel, Switzerland) · 2022Review
- Psychological Aspect and Quality of Life in Porphyrias: A Review.Diagnostics (Basel, Switzerland) · 2022Review
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
backgroundThe acute hepatic porphyrias (AHPs) are rare inborn errors of heme biosynthesis, characterized clinically by life-threatening acute neurovisceral attacks. Patients with recurrent attacks have a decreased quality of life (QoL); however, no interactive assessment of these patients' views has been reported. We conducted guided discussions regarding specific topics, to explore patients' disease experience and its impact on their lives.
methodsSixteen AHP patients experiencing acute attacks were recruited to moderator-led online focus groups. Five groups (3-4 patients each) were conducted and thematic analyses to identify, examine, and categorize patterns in the data was performed.
resultsAll patients identified prodromal symptoms that began days prior to acute severe pain; the most common included confusion ("brain fog"), irritability, and fatigue. Patients avoided hospitalization due to prior poor experiences with physician knowledge of AHPs or their treatment. All patients used complementary and alternative medicine treatments to avoid hospitalization or manage chronic pain and 81% reported varying degrees of effectiveness. All patients indicated their disease impacted personal relationships due to feelings of isolation and difficulty adjusting to the disease's limitations.
conclusionPatients with recurrent attacks recognize prodromal warning symptoms, attempt to avoid hospitalization, turn to alternative treatments, and have markedly impaired QoL. Counseling and individualized support is crucial for AHP patients with recurrent attacks.
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Registered trials
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