The present study was carried out in five cases of hepatic porphyria, including three of acute intermittent porphyria, one of variegate porphyria, and one of porphyria cutanea tarda in clinical remission. In two cases of acute intermittent porphyria (in relapse), a marked lowering effect on serum and urine porphobilinogen and delta-aminolevulinic acic was observed, together with prompt and gratifying clinical improvement. In a third case, in chemical remission but with longstanding psychoneurosis, no significant effects were noted, nor were any observed in the case of porphyria cutanea tarda. Although clinical improvements occurred in the case of variegate porphyria, the results were inconclusive for reasons given. Hematin was generally well tolerated. Preliminary reference is made to a transitory renal injury, without sequelae, where an excess of hematin was given in relation to time. Limits of tolerance are proposed. In the light of these observations the basic mechanism of the acute attack is diccussed.
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http://dx.doi.org/10.7326/0003-4819-83-1-20 | DOI Listing |
Scand J Gastroenterol
January 2025
Department of Gastroenterology, Hepatology, and Nutrition, Digestive Disease Institute, Cleveland Clinic Foundation, Cleveland, OH, USA.
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Methods: The study involved a retrospective cross-sectional analysis of adults aged 18 and older who were seen at our institution between 2013 and 2018.
Rev Med Chil
September 2024
Hospital de Niños Dr. Roberto del Río, Santiago, Chile.
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View Article and Find Full Text PDFRisk Manag Healthc Policy
January 2025
Department of Clinical Internal, Anesthesiological and Cardiovascular Sciences, Dermatology Clinic, Sapienza University of Rome, Rome, Italy.
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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 PDFMol 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.
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