The porphyrias are inherited disorders of haem synthesis and must be considered in the differential diagnosis of numerous disorders.
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Patient experience with acute hepatic porphyria before and after long-term givosiran treatment in a qualitative interview study.
Mol Genet Metab Rep
March 2025
Alnylam Pharmaceuticals, Maidenhead, UK.
Background: Acute hepatic porphyria (AHP) is characterized by debilitating and potentially life-threatening neurovisceral attacks, possible chronic symptoms, and long-term complications. In a phase 1/2 open-label extension (OLE) study and the phase 3 ENVISION study, givosiran led to sustained improvement in annualized attack rate and quality of life (QOL) measures. To capture the patient experience of symptoms and impacts of AHP, and any changes experienced during treatment with givosiran, qualitative interviews were conducted with study participants.
View Article and Find Full Text PDFBaseline urinary ALA and PBG as criteria for starting pharmacologic prophylactic treatment in acute intermittent porphyria treated with givosiran.
Mol Genet Metab Rep
December 2024
Department of Neurology, Chang Gung Memorial Hospital Linkou Medical Center and College of Medicine, Chang Gung University, Taoyuan, Taiwan.
Introduction: For patients with acute intermittent porphyria (AIP), a true attack could be difficult to distinguish from chronic abdominal pain. This study focused on treatment responses from two patients with confirmed elevated biochemical data (delta-aminolevulinic acid (ALA), porphobilinogen (PBG)) and clinical evidence for acute attacks before starting givosiran.
Methods: Data from patients who participated in the phase III givosiran trial in Taiwan between May 2018 and May 2021 were reviewed.
Background: Acute Hepatic Porphyria is a group of four rare genetic but treatable diseases that often go undiagnosed due to its non-specific symptoms, under-recognition of the condition by clinicians, and the lack of access to specialists and appropriate testing. This case-control study investigates the phenotypic and demographic patterns in Acute Hepatic Porphyria (AHP) patients at a tertiary care center (University of California Los Angeles) to update recommendations for recognition and diagnosis of this disease in our community.
Method: A retrospective chart analysis was conducted on 45 patients who were evaluated for AHP, Electronic Medical Record (EMR) data was collected and analyzed to investigate clinical differences and correlations.
Concordance Among In Vivo Reflectance Confocal Microscopy, Trichoscopy, and Histopathology in the Evaluation of Alopecia Areata Incognita.
Dermatol Pract Concept
October 2024
Dermatology Unit, IRCCS Humanitas Research Hospital, Rozzano, Milan, Italy.
Objectives: Alopecia areata incognita is a non-scarring autoimmune hair loss condition primarily affecting women aged 20 to 40. It is often misdiagnosed due to its resemblance to other conditions. Diagnosis relies on clinical suspicion, trichoscopic findings, and histological features.
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.
- Researchers developed oral inhibitors of the ABCG2 transporter, which helps remove protoporphyrin IX from cells, as a new therapeutic approach.
- In a mouse model of EPP, these inhibitors were successful in reducing protoporphyrin IX levels and preventing phototoxic reactions, offering a promising new treatment strategy.
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