Results 1 to 10 of about 10,332 (166)

Patient and caregiver experiences of living with acute hepatic porphyria in the UK: a mixed-methods study

Orphanet Journal of Rare Diseases, 2021
Background This study used quantitative and qualitative research methods to analyze how acute hepatic porphyria (AHP) affects patients with varying annualized porphyria attack rates.
Liz Gill, Sue Burrell, John Chamberlayne, Stephen Lombardelli, Jordanna Mora, Nicola Mason, Marieke Schurer, Madeline Merkel, Stephen Meninger, John J. Ko   +9 more
doaj   +1 more source

Quantifying the impact of symptomatic acute hepatic porphyria on well‐being via patient‐reported outcomes: Results from the Porphyria Worldwide Patient Experience Research (POWER) study

JIMD Reports, 2023
Acute hepatic porphyria (AHP) is a group of rare genetic diseases of heme biosynthesis resulting in severe neurovisceral attacks and chronic complications that negatively impact patients' well‐being.
Amy Dickey, Kristen Wheeden, Desiree Lyon, Sue Burrell, Sean Hegarty, Rocco Falchetto, Edrin R. Williams, Jasmin Barman‐Aksözen, Marc DeCongelio, Alison Bulkley, Joana E. Matos, Tarek Mnif, Jordanna Mora, John J. Ko, Stephen Meninger, Stephen Lombardelli, Danielle Nance   +16 more
doaj   +1 more source

Detect Acute Porphyrias in Emergency Departments (DePorED) – a pilot study

Orphanet Journal of Rare Diseases, 2023
Background Acute porphyrias (APs) are a group of rare metabolic diseases related to a disturbed heme biosynthesis. Symptoms may first occur as life threatening attacks, comprising abdominal pain and/or variable neuro-psychiatric symptoms, thus leading to
Eva Diehl-Wiesenecker, Sabine Blaschke, Nils Wohmann, Ilja Kubisch, Thomas Stauch, Mona Mainert, Franziska Helm, Sabine von Wegerer, David Pittrow, Jorge Frank, Ulrich Stölzel, Rajan Somasundaram   +11 more
doaj   +1 more source

Health-related quality of life in porphyria cutanea tarda: a cross-sectional registry based study

Health and Quality of Life Outcomes, 2020
Background Porphyria cutanea tarda (PCT) is a rare, photosensitive disease characterized by skin fragility and blistering on sun-exposed areas. There is little previous research on how this condition affects health-related quality of life (HRQoL) and to ...
Janice Andersen, Janne Thomsen, Åshild Rostad Enes, Sverre Sandberg, Aasne K. Aarsand   +4 more
doaj   +1 more source

The Porphyrias

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, 2022
SummaryThe porphyrias are clinically variable and genetically heterogeneous, predominantly hereditary metabolic diseases, which are caused by a dysfunction of specific enzymes in heme biosynthesis. Here, we provide an overview of the etiopathogenesis, clinic, differential diagnosis, laboratory diagnostics and therapy of these complex metabolic ...
Muschalek, Wiebke, Hermasch, Matthias A., Poblete‐ Gutiérrez, Pamela, Frank, Jorge   +3 more
openaire   +3 more sources

Porphyria cutanea tarda increases risk of hepatocellular carcinoma and premature death: a nationwide cohort study

Orphanet Journal of Rare Diseases, 2019
Background Porphyria cutanea tarda (PCT) is a skin disorder originating from a deficit of the liver enzyme uroporphyrinogen decarboxylase. PCT may be a risk factor for hepatocellular carcinoma (HCC) and other cancers, but the evidence is unclear.
Carl Michael Baravelli, Sverre Sandberg, Aasne Karine Aarsand, Mette Christophersen Tollånes   +3 more
doaj   +1 more source

Porphyria cutanea tarda and patterns of long-term sick leave and disability pension: a 24-year nationwide matched-cohort study

Orphanet Journal of Rare Diseases, 2022
Background Porphyria cutanea tarda (PCT) is a skin disorder caused by a defect in the liver enzyme uroporphyrinogen decarboxylase and is associated with hepatitis C virus infection, high alcohol intake, smoking and iron overload.
Carl Michael Baravelli, Aasne Karine Aarsand, Sverre Sandberg, Mette Christophersen Tollånes   +3 more
doaj   +1 more source

Self-efficacy and self-management strategies in acute intermittent porphyria

BMC Health Services Research, 2019
Background Acute intermittent porphyria (AIP) is an inherited metabolic disease with low clinical penetrance caused by mutations in the hydroxymethylbilane (HMBS) gene.
Marte H. Hammersland, Aasne K. Aarsand, Sverre Sandberg, Janice Andersen   +3 more
doaj   +1 more source

Precipitating factors of porphyria cutanea tarda in Brazil with emphasis on hemochromatosis gene (HFE) mutations. Study of 60 patients [PDF]

Anais Brasileiros de Dermatologia, 2013
BACKGROUND: Porphyria cutanea tarda is the most common form of porphyria, characterized by the decreased activity of the uroporphyrinogen decarboxylase enzyme.
Fatima Mendonca Jorge Vieira, Maria Cristina Nakhle, Clarice Pires Abrantes-Lemos, Eduardo Luiz Rachid Cancado, Vitor Manoel Silva dos Reis   +4 more
doaj   +1 more source

Porphyria cutanea tarda and Sjogren's syndrome [PDF]

Anais Brasileiros de Dermatologia, 2014
Porphyria cutanea tarda is prevalent in connective tissue disease, common in systemic lupus erythematosus. However, the co-existence of primary sjogren's syndrome and porphyria cutanea tarda is rare and poses diagnostic and therapeutic challenges.
Su Fang, XiaoJie Sun, ZanFeng Wang, DanYang Song, TieNan Li   +4 more
doaj   +1 more source