Andrea Lobo, PhD,  science writer—

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 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…

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…

Vitamin D supplementation significantly increases the levels of vitamin D and reduces its deficiency, which is prevalent in adults with erythropoietic protoporphyria (EPP), regardless of whether they’re being treated with Scenesse (afamelanotide), a recent study reports. However, treatment with Scenesse did not significantly affect the levels of vitamin D…

A new mutation in the HMBS gene was identified as the cause of acute intermittent porphyria (AIP) in a 22-year-old woman in China, according to a recent study. The mutation was found to affect splicing — the process that allows the coding regions of a gene to be joined…

People with acute intermittent porphyria (AIP) have high levels of three markers of kidney and liver injury in their blood, suggesting these could potentially serve as early biomarkers to mitigate damage, a recent study reports. Levels of these markers — KIM-1, FABP-1, and alpha-GST — were found to be…

Researchers in Italy hope to help clinicians more quickly recognize acute intermittent porphyria (AIP) in their case report of a young woman who saw her condition severely worsen after years of delayed diagnosis. The woman had a history of psychiatric issues and abdominal pain, and then developed neurological symptoms,…

Throughout 2023, Porphyria News Today has brought you coverage of the latest developments in scientific research and treatment for porphyria. Here’s a  brief look at the 10 most-read articles we published last year. We hope our stories in 2023 helped to inform and improve the lives of those…

A 33-year-old pregnant woman experiencing severe abdominal pain shortly before delivery and showing worsening neurological symptoms thereafter was misdiagnosed with several conditions before an acute intermittent porphyria (AIP) diagnosis was confirmed, according to a case report from Saudi Arabia. “[Neurologic] porphyria is an easily missed entity due to its…