Children with erythropoietic protoporphyria (EPP) — who have severe skin hypersensitivity to sunlight — experience “markedly reduced” physical and social quality of life compared with healthy youngsters, and even relative to adults with the condition, according to a study done in the Netherlands and Belgium. “Ensuring treatment availability for…
Blood levels of neurofilament light (NfL), a marker of nerve cell damage, are 68 times higher during an acute attack in people with acute hepatic porphyria (AHP) than the levels seen in healthy adults, a recent study reported. NfL levels were elevated in patients with sporadic or recurrent porphyria…
A new artificial intelligence (AI) algorithm may help reduce the time it takes to diagnose acute hepatic porphyria (AHP) and other rare diseases. That’s according to a study reporting that models using the AI algorithm “could identify 71% of [AHP] cases earlier than their…
Oral iron supplements may help people with erythropoietic protoporphyria (EPP) build back their iron reserves and increase the levels of hemoglobin — the iron-containing protein that carries oxygen in red blood cells — a small study in Denmark suggests. However, even when taken at small doses over a short…
A European Medicines Agency (EMA) committee has recommended that Scenesse (afamelanotide) be designated an orphan drug for the treatment of light sensitivity in people with variegate porphyria (VP). The implantable medication by Clinuvel is approved in the U.S. and European Union (EU) to treat people…
A rare mutation in the HFE gene, called H63D, was found to be the cause of hereditary hemochromatosis, a condition marked by iron overload, that ultimately led to porphyria cutanea tarda (PCT) in a 21-year-old man in the U.S., a case report shows. This case demonstrates the occurrence of…
Heavy alcohol consumption and hereditary hemochromatosis, a genetic disorder characterized by iron overload, are the leading risk factors for porphyria cutanea tarda (PCT), the most common form of porphyria, according to a retrospective 35-year follow-up study conducted in Scotland. Disease remission was more commonly achieved by patients who had…
A 21-year-old woman with congenital erythropoietic porphyria (CEP) — the rarest type of porphyria — required a liver transplant after she developed porto-sinusoidal vascular disease (PSVD), a condition characterized by high blood pressure, or hypertension, in the portal vein that runs through the liver. According to the authors, this…
The human immunodeficiency virus (HIV) was the trigger for porphyria cutanea tarda, a condition characterized by painful, blistering skin lesions from sun exposure, for a 33-year-old man in Spain, according to a recent case report. Once his HIV was under control, his porphyria also eased. His case was described…
CTX450, an investigational gene-editing therapy for acute hepatic porphyria (AHP), was able to normalize disease-associated biomarkers in a mouse model, showing its potential as a one-time intervention for the disease. CRISPR Therapeutics, the treatment’s developer, plans to launch studies to secure approval for first-in-human clinical trials, which are…
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