Erythropoietic protoporphyria (EPP) is an extremely rare disease which is often unrecognized as diagnosis. In the recent article Lui et al describe a patient with a new diagnosis of EPP with severe liver injury. Approximately 5%-20% of patients with EPP develop liver manifestations. The most severe complication of EPP is an hepatic crisis, which is a medical emergency requiring urgent treatment. Intensive treatment should consist of (exchange) transfusions and preferably in a center that performs liver transplantations.
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| http://dx.doi.org/10.3748/wjg.v25.i30.4292 | DOI Listing |
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The histamine pathway is a target to treat hepatic experimental erythropoietic protoporphyria.
Cell Mol Gastroenterol Hepatol
January 2025
Center for Advanced Biotechnology and Medicine, Rutgers University, Piscataway, NJ, USA. Electronic address:
Background & Aims: Erythropoietic protoporphyria (EPP) is caused by mutations in ferrochelatase which inserts iron into protoporphyrin-IX (PP-IX) to generate heme. EPP is characterized by PP-IX accumulation, skin photosensitivity, cholestasis, and end-stage liver disease. Despite available drugs that address photosensitivity, treatment of EPP-related liver disease remains an unmet need.
View Article and Find Full Text PDFReal-world assessment of the patient profile, clinical characteristics, treatment patterns, and outcomes associated with erythropoietic and X-linked protoporphyria.
J Dermatol
January 2025
Mitsubishi Tanabe Pharma America, Inc., Jersey City, New Jersey, USA.
Article Synopsis
- Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are rare genetic disorders that lack comprehensive management data, prompting a study of their characteristics and treatment in real-world U.S. settings.
- The study reviewed medical records of 299 EPP and 91 XLP patients, revealing a mean diagnosis delay of 2.9 years and highlighting common pre-diagnostic tests and lifestyle recommendations.
- Findings indicated a significant number of healthcare visits post-diagnosis and identified unmet needs, such as the need for quicker diagnoses, effective symptom relief, and better prevention of phototoxic reactions.
Correction: Erythropoietic protoporphyria: case reports for clinical and therapeutic hints.
Ital J Pediatr
December 2024
Department of Medicine, Surgery, and Health Sciences, University of Trieste, Trieste, Italy.
Discovery of MT-7117 (Dersimelagon Phosphoric Acid): A Novel, Potent, Selective, and Nonpeptidic Orally Available Melanocortin 1 Receptor Agonist.
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Research Division, Mitsubishi Tanabe Pharma Corporation, 1000 Kamoshida-cho, Aoba-ku, Yokohama 227-0033, Japan.
Activation of the melanocortin 1 receptor (MC1R) mediates melanogenesis in melanocytes, anti-inflammatory effects in inflammatory cells, and antifibrotic effects in fibroblasts. Thus, MC1R agonists are expected to be beneficial for treating skin, autoimmune, inflammatory, and fibrotic diseases. Afamelanotide, an α-melanocyte-stimulating hormone (α-MSH) analogue MC1R agonist, is used clinically for treating erythropoietic protoporphyria (EPP) as a subcutaneous implant formulation.
View Article and Find Full Text PDFInhibition of ABCG2 prevents phototoxicity in a mouse model of erythropoietic protoporphyria.
Nat Commun
December 2024
Center for Pharmacogenetics, Department of Pharmaceutical Sciences, School of Pharmacy, University of Pittsburgh, Pittsburgh, PA, USA.
Article Synopsis
- Erythropoietic protoporphyria (EPP) is a genetic disorder that causes painful skin reactions when exposed to light, with few treatment options available.
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