ArticleOrphanet journal of rare diseases2021
Health impact of acute intermittent porphyria in latent and non-recurrent attacks patients.
Article in Orphanet journal of rare diseases, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 36 citations in OpenAlex.
- 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
- Nutrition and rare diseases: a case study of patients with acute intermittent porphyria (AIP).Nutrition & metabolism · 2025Article
- Effects of internet-based health education on patients with acute intermittent porphyria.Orphanet journal of rare diseases · 2024Article
- German Real-World Experience of Patients with Diverse Features of Acute Intermittent Porphyria Treated with Givosiran.Journal of clinical medicine · 2024Article
- The Alpha-Lipoic Acid Improves Glucose Metabolism and Hyperinsulinemia in Acute Intermittent Porphyria: A Nutritional Concept for the Management of Rare Disorders.Cellular and molecular gastroenterology and hepatology · 2024Article
- Neurofilament light chain as a biomarker for acute hepatic porphyrias.Frontiers in neurology · 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
- A novel mutation c.457C > T p.Q153 in the HMBS gene in a Mexican woman with acute intermittent porphyria.Clinical case reports · 2023Article
- Nutritional Interventions withInternational journal of molecular sciences · 2023Article
- Article
- Recent Insights into the Pathogenesis of Acute Porphyria Attacks and Increasing Hepatic PBGD as an Etiological Treatment.Life (Basel, Switzerland) · 2022Review
- EXPLORE B: A prospective, long-term natural history study of patients with acute hepatic porphyria with chronic symptoms.Journal of inherited metabolic disease · 2022Article
- Psychological Aspect and Quality of Life in Porphyrias: A Review.Diagnostics (Basel, Switzerland) · 2022Review
- Acute intermittent porphyria: prevalence of pathogenicAnnals of translational medicine · 2022Article
- Long-term follow-up of acute porphyria in female patients: Update of clinical outcome and life expectancy.Molecular genetics and metabolism reports · 2022Article
- Kidney Involvement in Acute Hepatic Porphyrias: Pathophysiology and Diagnostic Implications.Diagnostics (Basel, Switzerland) · 2021Review
- Acute Hepatic Porphyria: Pathophysiological Basis of Neuromuscular Manifestations.Frontiers in neuroscience · 2021Review
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Authors and funding
13 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAcute intermittent porphyria (AIP) is a genetic disease characterized by acute neurovisceral attacks. Long-term clinical conditions, chronic symptoms and impaired health related quality of life (HRQoL) have been reported during non-attack periods but mainly in patients with recurrent attacks. Our aim was to investigate these aspects in sporadic AIP (SA-AIP) and latent AIP (L-AIP) patients. Fifty-five participants, 27 SA-AIP (< 4 attacks/year) and 28 L-AIP patients with a prevalent founder mutation from Spain were included. Medical records were reviewed, and individual interviews, physical examinations, biochemical analyses, and abdominal ultrasound scans were conducted. HRQoL was assessed through an EQ-5D-5L questionnaire. A comparative study was made between SA-AIP and L-AIP patients.
resultsThe earliest long-term clinical condition associated with SA-AIP was chronic kidney disease. Chronic symptoms were reported in 85.2 % of SA-AIP and 46.4 % of L-AIP patients. Unspecific abdominal pain, fatigue, muscle pain and insomnia were significantly more frequent in SA-AIP than in L-AIP patients. The EQ-5D-5L index was lower in SA-AIP (0.809 vs. 0.926, p = 0.0497), and the impact of "pain", "anxiety-depression" and "mobility" was more intense in the EQ-5D-5L domains in SA-AIP than in L-AIP subjects and the general Spanish population.
conclusionsAIP remains a chronically symptomatic disease that adversely affects health and quality of life, even in patients with low rate of acute attacks. We suggest a regular monitoring of patients with symptomatic AIP regardless of their attack rate or the time since their last attack, with proper pain management and careful attention to kidney function.
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