Marisa Wexler, MS, senior science writer —

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…

For this year’s Global Porphyria Day on May 18, supporters are encouraged to wear purple, decorate their homes in purple, and take to social media using the hashtag #PurpleforPorphyria to raise awareness about porphyria and share their stories. Advocacy organizations, including the United Porphyrias Association (UPA) and the Global…

A wearable light sensor may be used to help track light exposure and predict the risk of symptoms for people with erythropoietic protoporphyria (EPP), a study found. “Our results show significant promise for [the device’s] use in EPP and suggest promise for other photosensitivity disorders,” the researchers wrote. The…

The Phase 2 AURORA clinical trial has met its main goal, demonstrating that treatment with the experimental oral medication bitopertin reduced the levels of protoporphyrin IX in people with erythropoietic protoporphyria (EPP). In EPP, disease symptoms are driven by the toxic buildup of protoporphyrin IX (abbreviated PPIX). Consistent…

Treatment with Givlaari (givosiran) was effective for resolving symptoms of hereditary coproporphyria (HCP) in a 47-year-old Japanese woman, according to a recent report. Her symptoms remained well-controlled for more than two years after stopping Glivlaari, according to the report, “A Case of Hereditary Coproporphyria in…

Outcomes for children with congenital erythropoietic porphyria (CEP) have improved over the last few decades, and babies with CEP today are more likely to receive treatment that can improve their survival. That’s according to findings from a study, “Severe Perinatal Presentations of Günther’s Disease: Series of…

Treatment with the oral therapy bitopertin substantially increased sunlight tolerance for adults with erythropoietic protoporphyria (EPP) in a Phase 2 clinical trial, according to data on all its adult participants. The experimental treatment also significantly reduced levels of protoporphyrin IX (PPIX) and improved quality of life for most patients.

The International Porphyrias Symposium 2023, where experts discuss the latest research into porphyria, will be held later this week and will feature a day dedicated to people with the disease. The symposium, which is designed for clinicians who care for people with porphyria and scientists conducting research related…

An unusual case of acute intermittent porphyria (AIP) that was marked by seizures was described in a recent case report. “This case report is rare and suggests that for patients who experience epileptic seizures coupled with complaints related to the abdomen, the possibility of porphyria should be specially considered…

Scientists in Switzerland have reported the first documented case of acute intermittent porphyria (AIP) caused by a mosaic mutation — a genetic mutation that affected only a fraction of the patient’s cells. Their findings suggest that new mosaic mutations could potentially be the cause for acute porphyria in other…