ArticleThe patient2018
Patient Perspective on Acute Intermittent Porphyria with Frequent Attacks: A Disease with Intermittent and Chronic Manifestations.
Article in The patient, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 1 of them a synthesis that pooled it.
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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
32 citing papers in PubMed, 1 synthesis or guideline pooled it.
- AGA Clinical Practice Update on Diagnosis and Management of Acute Hepatic Porphyrias: Expert Review.Gastroenterology · 2023Guideline
- Efficacy and safety of givosiran in Japanese patients with acute hepatic porphyria: clinical findings from an expanded access study.Scientific reports · 2025Trial
- 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
- Understanding Symptoms in RYR1-Related Myopathies: A Mixed-Methods Analysis Based on Participants' Experience.The patient · 2020Trial
- 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
- Patient experience with acute hepatic porphyria before and after long-term givosiran treatment in a qualitative interview study.Molecular genetics and metabolism reports · 2025Article
- Baseline urinary ALA and PBG as criteria for starting pharmacologic prophylactic treatment in acute intermittent porphyria treated with givosiran.Molecular genetics and metabolism reports · 2024Article
- Unraveling Complexity: Acute Intermittent Porphyria Complicated by Rhabdomyolysis and Acute Pancreatitis.Cureus · 2024Article
- FiTMuSiC: leveraging structural and (co)evolutionary data for protein fitness prediction.Human genomics · 2024Article
- Obstacles to Early Diagnosis of Acute Hepatic Porphyria: Current Perspectives on Improving Early Diagnosis and Clinical Management.Clinical and experimental gastroenterology · 2024Review
- 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
- Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.American journal of human genetics · 2023Article
- Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.bioRxiv : the preprint server for biology · 2023Article
- Article
- EXPLORE B: A prospective, long-term natural history study of patients with acute hepatic porphyria with chronic symptoms.Journal of inherited metabolic disease · 2022Article
- Patient Perspective on Acute Hepatic Porphyria with Sporadic Attacks: A Chronic Disease with Substantial Health-Related Quality of Life Impacts.Advances in therapy · 2022Article
- Psychological Aspect and Quality of Life in Porphyrias: A Review.Diagnostics (Basel, Switzerland) · 2022Review
- Challenges in diagnosis and management of acute hepatic porphyrias: from an uncommon pediatric onset to innovative treatments and perspectives.Orphanet journal of rare diseases · 2022Review
Corrections and comments
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Authors and funding
11 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveAcute intermittent porphyria is a rare metabolic disorder that affects heme synthesis. Patients with acute intermittent porphyria may experience acute debilitating neurovisceral attacks that require frequent hospitalizations and negatively impact quality of life. Although clinical aspects of acute intermittent porphyria attacks have been documented, the experience of patients is not well known, particularly for those more severely affected patients who experience frequent attacks. The aim of the present study was to qualitatively characterize the experience of patients with acute intermittent porphyria who have frequent attacks, as well as the impact of the disease on daily living.
methodsPatients with acute intermittent porphyria who experience frequent attacks were recruited and took part in 2-h qualitative one-on-one interviews with a semi-structured guide. Interviews were anonymized, transcribed, and coded. The inductive coding approach targeted textual data related to acute intermittent porphyria attack symptoms, chronic symptoms, and the impact of the disease. Saturation analysis was conducted to assess whether the research elicited an adequate account of patients' experiences.
resultsIn total, 19 patients with acute intermittent porphyria were interviewed (mean age 40 years; 79% female). Eighteen patients (95%) experienced both attack and chronic symptoms. Patients described attacks as the onset of unmanageable symptoms that generally lasted 3-5 days requiring hospitalization and/or treatment. Pain, nausea, and vomiting were considered key attack symptoms; pain, nausea, fatigue, and aspects of neuropathy (e.g., tingling and numbness) were considered key chronic symptoms.
conclusionsIn this study population of acute intermittent porphyria with frequent attacks, most patients had symptoms during and between attacks. In these patients, acute intermittent porphyria appears to have acute exacerbations as well as chronic day-to-day manifestations, and is not just intermittent as its name implies. As a result, patients reported limitations in their ability to function across multiple domains of their lives on a regular basis and not just during acute attacks.
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