Observational studyJournal of inherited metabolic disease2018
Medical and financial burden of acute intermittent porphyria.
Observational study in Journal of inherited metabolic disease, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 57 citations in OpenAlex.
- Liver transplantation and primary liver cancer in porphyria.Liver international : official journal of the International Association for the Study of the Liver · 2025Review
- Scoping Review of Economic Analyses of Rare Kidney Diseases.Kidney international reports · 2024Article
- Neurofilament light chain as a biomarker for acute hepatic porphyrias.Frontiers in neurology · 2024Article
- Article
- Intrahepatic Cholangiocarcinoma and Acute Intermittent Porphyria: A Case Report.Journal of clinical medicine · 2023Article
- Brazilian registry of patients with porphyria: REBRAPPO study.Orphanet journal of rare diseases · 2023Article
- A case report of acute intermittent porphyria leading to severe disability.Frontiers in neurology · 2023Article
- Article
- Mortality in Pedigrees with Acute Intermittent Porphyria.Life (Basel, Switzerland) · 2022Article
- Recent Insights into the Pathogenesis of Acute Porphyria Attacks and Increasing Hepatic PBGD as an Etiological Treatment.Life (Basel, Switzerland) · 2022Review
- Acute Intermittent Porphyria: Complete Phenotype in a Patient with p.Arg173Trp Variant in Thailand.The American journal of case reports · 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
- 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
- Heme Biosynthetic Gene Expression Analysis With dPCR in Erythropoietic Protoporphyria Patients.Frontiers in physiology · 2022Article
- mRNA-based therapy in a rabbit model of variegate porphyria offers new insights into the pathogenesis of acute attacks.Molecular therapy. Nucleic acids · 2021Article
- Estimating the broader fiscal consequences of acute hepatic porphyria (AHP) with recurrent attacks in Belgium using a public economic analytic framework.Orphanet journal of rare diseases · 2021Article
- Healthcare Utilization and Cost Burden of Porphyria in Commercially Insured Adults in the United States.PharmacoEconomics - open · 2021Article
- Acute Intermittent Porphyria: An Overview of Therapy Developments and Future Perspectives Focusing on Stabilisation of HMBS and Proteostasis Regulators.International journal of molecular sciences · 2021Review
- Acute Hepatic Porphyria: Pathophysiological Basis of Neuromuscular Manifestations.Frontiers in neuroscience · 2021Review
Corrections and comments
- Erratum issued
Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionA small proportion of patients with acute intermittent porphyria (AIP) suffer from recurrent porphyric attacks, with a severely diminished quality of life. In this retrospective case-control study, the burden of disease is quantified and compared among three AIP patient subgroups: cases with recurrent attacks, cases with one or occasional attacks and asymptomatic carriers.
methodsData from patient records and questionnaires were collected in patients between 1960 and 2016 at the Erasmus Medical Center, Rotterdam, the Netherlands. We collected symptoms related to porphyria, porphyria related complications, attack frequency, hospitalisation frequency, hospitalisation days related to acute porphyric attacks, frequency of heme infusions and medical healthcare costs based on hospitalisations and heme therapy.
resultsIn total 11 recurrent AIP cases, 24 symptomatic AIP cases and 53 AIP carriers as controls were included. All recurrent patients reported porphyria related symptoms, such as pain, neurological and/or psychiatric disorders, and nearly all developed complications, such as hypertension and chronic kidney disease. In the recurrent cases group, the median lifelong number of hospitalisation days related to porphyric attacks was 82 days per patient (range 10-374), and they spent a median of 346 days (range 34-945) at a day-care facility for prophylactic heme therapy; total follow-up time was 243 person-years (PYRS). In the symptomatic non-recurrent group the median lifelong number of hospitalisation days related to porphyric attacks was 7 days per patient (range 1-78), total follow-up time was 528 PYRS. The calculated total medical healthcare cost for recurrent cases group was €5.8 million versus €0.3 million for the symptomatic cases group.
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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.