Self‐Reported Liver Disease and the Burden of Erythropoietic Protoporphyria [PDF]
JIMD ReportsErythropoietic protoporphyria (EPP) and X‐linked protoporphyria are metabolic disorders that cause skin phototoxicity and potential liver damage. We compared symptoms and impacts of phototoxic reactions, health‐related quality of life, and healthcare ...
Hetanshi Naik +7 more
doaj +3 more sources
Validation of the sunlight exposure diary and the erythropoietic protoporphyria impact questionnaire (EPIQ) [PDF]
Orphanet Journal of Rare DiseasesBackground Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are rare disorders that can negatively affect one’s health-related quality of life (HRQoL) because of pain from phototoxic reactions and the avoidance of sun exposure that ...
Hetanshi Naik +7 more
doaj +2 more sources
Long-term iron supplementation in four patients with X-linked erythropoietic protoporphyria: associations with serum proteins and erythrocyte protoporphyrin levels—a single-centre retrospective study [PDF]
Frontiers in Molecular BiosciencesIntroductionX-linked erythropoietic protoporphyria (XLEPP) is an ultra-rare inborn error of the heme biosynthesis characterised by the accumulation of large amounts of protoporphyrin IX (PPIX) and zinc-protoporphyrin in the erythrocytes. PPIX absorbs the
Anna-Elisabeth Minder +14 more
doaj +2 more sources
Case Report: Cholestatic liver disease in the course of erythropoietic protoporphyria associated with renal hypodysplasia and atrial septal defect [PDF]
Frontiers in PediatricsErythropoietic protoporphyria (EPP) is an autosomal recessive disorder of the heme biosynthesis pathway caused by pathogenic variants in FECH gene resulting in a decreased activity of ferrochelatase.
Patryk Lipiński +8 more
doaj +2 more sources
Afamelanotide for Erythropoietic Protoporphyria
New England Journal of Medicine, 2015 Erythropoietic protoporphyria is a severe photodermatosis that is associated with acute phototoxicity. Patients with this condition have excruciating pain and a markedly reduced quality of life. We evaluated the safety and efficacy of an α-melanocyte-stimulating hormone analogue, afamelanotide, to decrease pain and improve quality of life.We conducted ...
Janneke G Langendonk +2 more
exaly +5 more sources
Erythropoietic protoporphyria linked to intricate double heterozygous mutations in theFECH gene: a case report and literature review [PDF]
Orphanet Journal of Rare DiseasesBackground Erythropoietic protoporphyria is an inherited disorder characterized by mutations in the FECH gene, which encodes the enzyme ferrous chelatase.
Hongli Xiong +4 more
doaj +2 more sources
Afamelanotide Is Associated with Dose-Dependent Protective Effect from Liver Damage Related to Erythropoietic Protoporphyria [PDF]
Life, 2023 In animal models, melanocyte-stimulating hormones (MSHs) protect the liver from various injuries. Erythropoietic protoporphyria (EPP), a metabolic disorder, leads to the accumulation of protoporphyrin (PPIX).
Anna-Elisabeth Minder +4 more
doaj +2 more sources
Inhibition of ABCG2 prevents phototoxicity in a mouse model of erythropoietic protoporphyria [PDF]
Nature CommunicationsErythropoietic protoporphyria (EPP) is a genetic disease characterized by protoporphyrin IX-mediated painful phototoxicity. Currently, options for the management of EPP-associated phototoxicity are limited and no oral medication is available.
Junjie Zhu +8 more
doaj +2 more sources
Frontiers in Medicine, 2021 Introduction: Subjects with erythropoietic protoporphyria rely on broad-spectrum sunscreens with high sun protection factor, which is not informative on efficacy in the absorption spectrum of protoporphyrin IX, spanning visible radiation and peaking ...
Alvise Sernicola +7 more
doaj +1 more source
From darkness to light: Case report on afamelanotide-treatment in a 9-year-old child with erythropoietic protoporphyria [PDF]
JAAD Case ReportsAnna-Elisabeth Minder, MD +1 more
doaj +2 more sources