934 results match your criteria Congenital Erythropoietic Porphyria

Liver involvement in patients with erythropoietic protoporphyria.

Dig Liver Dis 2021 Aug 30. Epub 2021 Aug 30.

Porphyria Expertcenter Rotterdam, Center for Lysosomal and Metabolic Disease, Department of Internal Medicine, Erasmus MC, University Medical Center Rotterdam, Dr. Molewaterplein 40, 3015, GD, Rotterdam, the Netherlands. Electronic address:

Background: In erythropoietic protoporphyria (EPP), which presents with severe painful phototoxicity, progressive deposition of protoporphyrins in hepatocytes and bile canaliculi may result in liver disease. Clinically EPP related liver disease ranges from mildly elevated liver enzymes to cirrhosis and acute cholestatic hepatic failure. The prevalence of liver disease in EPP, and factors predicting the risk of developing liver disease, have not been defined in a large series of unselected EPP patients. Read More

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Ultraviolet A phototest positivity is associated with higher free erythrocyte protoporphyrin IX concentration and lower transferrin saturation values in erythropoietic protoporphyria.

Photodermatol Photoimmunol Photomed 2021 Aug 22. Epub 2021 Aug 22.

Dermatology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

Background: Erythropoietic protoporphyria (EPP) is a rare disorder of heme biosynthesis hallmarked by early-onset photosensitivity and mainly due to defective ferrochelatase activity leading to increased erythrocyte protoporphyrin IX (PPIX) levels. Evidence regarding the relationship between erythrocyte PPIX concentration and photosensitivity is limited.

Methods: To investigate the relationship between free erythrocyte PPIX (FEP) concentration; routine laboratory tests, particularly iron metabolism biomarkers; and ultraviolet (UV) A/visible light phototesting findings, 20 genetically confirmed EPP and one XLPP treatment-naive patients were included in our study. Read More

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Validation of a novel patient reported tool to assess the impact of treatment in erythropoietic protoporphyria: the EPP-QoL.

J Patient Rep Outcomes 2021 Aug 3;5(1):65. Epub 2021 Aug 3.

Acaster Lloyd Consulting Ltd, London, UK.

Background: A novel treatment has been developed for erythropoietic protoporphyria (EPP) (a rare condition that leaves patients highly sensitive to light). To fully understand the burden of EPP and the benefit of treatment, a novel patient reported outcome (PRO) measure was developed called the EPP-QoL. This report describes work to support the validation of this measure. Read More

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Hematopoietic stem cell transplant for erythropoietic porphyrias in pediatric patients.

Pediatr Blood Cancer 2021 Sep 10;68(9):e29231. Epub 2021 Jul 10.

Division of Bone Marrow Transplant and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.

Cutaneous, hematopoietic, and hepatic manifestations of congenital erythropoietic porphyria (CEP) and erythropoietic protoporphyria (EPP) can be debilitating. We present our institution's experience with five patients with porphyria who underwent hematopoietic stem cell transplant (HSCT). Four patients with CEP, including three under age 2, received myeloablation. Read More

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September 2021

Perinatal onset of severe congenital erythropoietic porphyria.

Arch Dis Child Fetal Neonatal Ed 2021 Jun 29. Epub 2021 Jun 29.

Neonatology, Public Assistance Hospitals of Marseille, Marseille, France

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Internist (Berl) 2021 Sep 29;62(9):937-951. Epub 2021 Jun 29.

Porphyrie Zentrum, Klinikum Chemnitz gGmbH, Flemmingstr. 2, 09009, Chemnitz, Deutschland.

Porphyrias are caused by enzyme defects along the heme biosynthetic pathway. The first line diagnosis of porphyria is based on specific biochemical patterns of elevated porphyrins and porphyrin precursors in urine, feces, and blood. In clinically active disease accumulated porphyrin precursors and/or porphyrins lead to abdominal, neurologic, psychiatric, endocrine and cardiovascular symptoms, liver damage and/or skin photosensitivity. Read More

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September 2021

Improving the Pharmacological Properties of Ciclopirox for Its Use in Congenital Erythropoietic Porphyria.

J Pers Med 2021 May 28;11(6). Epub 2021 May 28.

ATLAS Molecular Pharma S. L. Parque Tecnológico de Vizcaya, Ed. 800, 48160 Derio, Spain.

Congenital erythropoietic porphyria (CEP), also known as Günther's disease, results from a deficient activity in the fourth enzyme, uroporphyrinogen III synthase (UROIIIS), of the heme pathway. Ciclopirox (CPX) is an off-label drug, topically prescribed as an antifungal. It has been recently shown that it also acts as a pharmacological chaperone in CEP, presenting a specific activity in deleterious mutations in UROIIIS. Read More

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Acitretin mitigates uroporphyrin-induced bone defects in congenital erythropoietic porphyria models.

Sci Rep 2021 May 5;11(1):9601. Epub 2021 May 5.

Center for Advanced Biotechnology and Medicine, Rutgers University, Piscataway, 08854, USA.

Congenital erythropoietic porphyria (CEP) is a rare genetic disorder leading to accumulation of uro/coproporphyrin-I in tissues due to inhibition of uroporphyrinogen-III synthase. Clinical manifestations of CEP include bone fragility, severe photosensitivity and photomutilation. Currently there is no specific treatment for CEP, except bone marrow transplantation, and there is an unmet need for treating this orphan disease. Read More

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Erythropoietic protoporphyria: time to prodrome, the warning signal to exit sun exposure without pain-a patient-reported outcome efficacy measure.

Genet Med 2021 May 3. Epub 2021 May 3.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

Purpose: Patients with erythropoietic protoporphyria (EPP), a severe painful photodermatosis, experience prodromal sensations when exposed to sunlight, which are the "warning signals" to exit the sun, as prolonged exposure causes an excruciatingly painful phototoxic attack. The unique prodromal cutaneous sensations are reversible and differ from the severe burning pain attack lasting 2-7 days. Previously, afamelanotide treatment was studied using time to pain or time outside as primary outcome measures. Read More

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Congenital erythropoietic porphyria: A case series of a rare uroporphyrinogen III synthase gene mutation in Nepalese patients.

JAAD Case Rep 2021 Apr 25;10:102-106. Epub 2021 Feb 25.

Department of Dermatology and Venereology, Kathmandu Medical College and Teaching Hospital, Kathmandu, Nepal.

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Case Report: A Possible Case of Congenital Erythropoietic Porphyria in a Gir Calf: A Clinical, Pathological, and Molecular Approach.

Front Vet Sci 2021 12;8:632762. Epub 2021 Mar 12.

Veterinary Pathology Laboratory, University of Brasília, Campus Darcy Ribeiro, Brasília, Brazil.

Congenital erythropoietic porphyria (CEP) is a rare hereditary autosomal recessive disease which has never been reported in Zebu cattle. A 3-day-old Gir calf showed teeth discoloration, fever, dehydration, and dyspnea. The main gross findings were pink-colored teeth, red-brown periosteum and bone marrow, and a fluorescent bright pink coloration of the bone marrow and articular surfaces under ultraviolet light. Read More

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Repurposing of glycine transport inhibitors for the treatment of erythropoietic protoporphyria.

Cell Chem Biol 2021 Aug 22;28(8):1221-1234.e6. Epub 2021 Mar 22.

Institute of Pharmaceutical Sciences, Department of Chemistry and Applied Biosciences, ETH Zurich, 8093 Zurich, Switzerland. Electronic address:

Erythropoietic protoporphyria (EPP) is a rare disease in which patients experience severe light sensitivity. It is caused by a deficiency of ferrochelatase (FECH), the last enzyme in heme biosynthesis (HBS). The lack of FECH causes accumulation of its photoreactive substrate protoporphyrin IX (PPIX) in patients' erythrocytes. Read More

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Identification of novel mutations in a patient with congenital erythropoietic porphyria and efficient treatment by phlebotomy.

Mol Genet Metab Rep 2021 Jun 11;27:100722. Epub 2021 Feb 11.

Univ. Bordeaux, INSERM, BMGIC, U1035, CHU Bordeaux, 33076 Bordeaux, France.

Congenital erythropoietic porphyria (CEP) is an autosomal recessive disorder of the heme biosynthetic pathway that is characterized by uroporphyrinogen III synthase (UROS) deficiency and the accumulation of non-physiological isomer I porphyrins. These phototoxic metabolites predominantly produced by the erythron result in ineffective erythropoiesis, chronic hemolysis and splenomegaly, but they also disseminate in tissues causing bullous photosensitivity to UV light and skin fragility that may progress to scarring with photo mutilation. Therapeutic management is currently limited to supportive care and bone marrow transplantation is reserved for the most severe cases. Read More

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Givosiran to treat acute porphyria.

Drugs Today (Barc) 2021 Jan;57(1):47-59

Section on Gastroenterology, Wake Forest Baptist Medical Center, Winston-Salem, North Carolina, USA.

Porphyrias are a family of rare diseases chiefly due to inborn errors of heme biosynthesis. The porphyrias are generally characterized either by the main site of overproduction of heme precursors (hepatic or erythropoietic) or the main clinical manifestations (acute or cutaneous). The regulation of 5- (or δ)-aminolevulinic acid synthase 1 (ALAS1) plays a key role in the pathway of normal hepatic heme synthesis, providing insight into the pathophysiologic mechanisms and potential therapeutic targets for the treatment of the porphyrias. Read More

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January 2021

Inherited genetic late-onset erythropoietic protoporphyria: A systematic review of the literature.

Photodermatol Photoimmunol Photomed 2021 Feb 8. Epub 2021 Feb 8.

Photodermatosis Service, Division of Dermatology, Rabin Medical Center, Petah Tikva, Israel.

Background: Inherited genetic erythropoietic protoporphyria (EPP) is characterized by a photosensitive rash that emerges during infancy or early childhood. Acquired EPP can erupt at any age, even during adulthood, and is associated with hematological disorders. A third, less-studied type of EPP is also inherited but appears later in life (during adulthood). Read More

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February 2021

Afamelanotide for prevention of phototoxicity in erythropoietic protoporphyria.

Expert Rev Clin Pharmacol 2021 Feb;14(2):151-160

Porphyria Centre Rotterdam, Centre for Lysosomal and Metabolic Disease, Department of Internal Medicine, Erasmus University Medical Centre Rotterdam, The Netherlands.

: In erythropoietic protoporphyria (EPP), an inherited disorder of heme biosynthesis, accumulation of protoporphyrin IX results in acute phototoxicity. EPP patients experience severe burning pain after light exposure, which results in a markedly reduced quality of life. Afamelanotide is the first effective approved medical treatment for EPP, acting on melanocortin-1 receptors. Read More

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February 2021

Clinical features of genetic cutaneous porphyrias in Israel: A nationwide survey.

Photodermatol Photoimmunol Photomed 2021 May 20;37(3):236-242. Epub 2020 Dec 20.

Division of Dermatology, Photodermatosis Service, Rabin Medical Center, Petah Tikva, Israel.

Background: There are three major types of genetic cutaneous porphyrias (GCP): erythropoietic protoporphyria (EPP), variegate porphyria (VP), and hereditary coproporphyria (HCP). Scarce data are available regarding their impact on patients' quality of life in the Mediterranean region.

Purpose: To describe the cutaneous features of GCP in Israel. Read More

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Metabolic Landscape of the Mouse Liver by Quantitative P Nuclear Magnetic Resonance Analysis of the Phosphorome.

Hepatology 2021 Jul 15;74(1):148-163. Epub 2021 Jun 15.

Precision Medicine and Metabolism Laboratory, CIC bioGUNE, Basque Research and Technology Alliance, Parque Tecnológico de Bizkaia, Derio, Spain.

Background And Aims: The liver plays a central role in all metabolic processes in the body. However, precise characterization of liver metabolism is often obscured by its inherent complexity. Phosphorylated metabolites occupy a prominent position in all anabolic and catabolic pathways. Read More

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Updates on the diagnosis and management of the most common hereditary porphyrias: AIP and EPP.

Hematology Am Soc Hematol Educ Program 2020 12;2020(1):400-410

University of Washington, Seattle, Washington.

The porphyrias are a family of metabolic disorders caused by defects in the activity of one of the enzymes in the heme biosynthetic pathway. Acute intermittent porphyria (AIP), caused by autosomal dominant mutations in the gene encoding hydroxymethylbilane synthase, can lead to hepatocyte overaccumulation and systemic distribution of the proximal porphyrin precursors, 5-aminolevulinic acid (ALA) and porphobilinogen (PBG). ALA and PBG are toxic to neurons and extrahepatic tissue and cause the neurovisceral clinical manifestations of AIP. Read More

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December 2020

A simple Rx for congenital erythropoietic porphyria.

Janis L Abkowitz

Blood 2020 11;136(21):2371-2372

University of Washington.

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November 2020

Clinical and molecular epidemiology of erythropoietic protoporphyria in Italy.

Eur J Dermatol 2020 Oct;30(5):532-540

Divisione di Medicina Interna, Centro di riferimento regionale per la diagnosi e la cura delle Porfirie, Policlinico di Modena, Dipartimento di Scienze Medico-Chirurgiche Materno-Infantili e dell'Adulto, Università di Modena e Reggio Emilia.

Background: Erythropoietic protoporphyria (EPP) is a rare inherited disease associated with heme metabolism, characterized by severe life-long photosensitivity and liver involvement.

Objective: To provide epidemiological data of EPP in Italy.

Materials & Methods: Prospective/retrospective data of EPP patients were collected by an Italian network of porphyria specialist centres (Gruppo Italiano Porfiria, GrIP) over a 20-year period (1996-2017). Read More

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October 2020

Use of polarized dermoscopy in the evaluation of congenital erythropoietic porphyria.

Clin Exp Dermatol 2021 Apr 27;46(3):556-557. Epub 2020 Sep 27.

Department of Dermatology, Venereology and Leprology, Postgraduate Institute of Medical Education & Research (PGIMER), Chandigarh, India.

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Increased phototoxic burn tolerance time and quality of life in patients with erythropoietic protoporphyria treated with afamelanotide - a three years observational study.

Orphanet J Rare Dis 2020 08 18;15(1):213. Epub 2020 Aug 18.

Department for Endocrinology, Diabetology, Porphyria, Stadtspital Waid und Triemli, Zurich, Switzerland.

Background: Erythropoietic protoporphyria (EPP) is an ultra-rare genetic disorder (prevalence 1:150`000) characterized by instant painful phototoxic burn reactions in skin exposed to visible light. Afamelanotide is the first clinically tested therapy effectively increasing the time EPP patients can spend in direct sunlight without developing symptoms and reducing the number and severity of phototoxic reactions.

Objectives: We report our data on real-world effectiveness of afamelanotide treatment in EPP and its phototoxic burn protection factor (PBPF). Read More

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Mutation-Specific Guide RNA for Compound Heterozygous Porphyria On-target Scarless Correction by CRISPR/Cas9 in Stem Cells.

Stem Cell Reports 2020 09 13;15(3):677-693. Epub 2020 Aug 13.

Univ Bordeaux, Bordeaux 33000, France; INSERM U1035, Biotherapy of Genetic Diseases, Inflammatory Disorders and Cancers, Bordeaux 33000, France; Biochemistry Laboratory, CHU Bordeaux, Bordeaux 33000, France; Laboratory of Excellence, GR-Ex, Imagine Institute, Paris 75015, France. Electronic address:

CRISPR/Cas9 is a promising technology for gene correction. However, the edition is often biallelic, and uncontrolled small insertions and deletions (indels) concomitant to precise correction are created. Mutation-specific guide RNAs were recently tested to correct dominant inherited diseases, sparing the wild-type allele. Read More

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September 2020

Congenital erythropoietic porphyria (Gunther disease): a case report.

Oxf Med Case Reports 2020 Jul 24;2020(7):omaa051. Epub 2020 Jul 24.

Department of Dermatology and Venereology, Damascus University, Damascus, Syria.

Congenital erythropoietic porphyria (CEP or Gunther disease) is a very rare subtype of porphyria with a prevalence of <0.9 per 1 000 000. A 13-year-old female patient came to our hospital complaining of a severe cutaneous ulceration and scarring. Read More

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