Marisa Wexler, MS,  senior science writer—

The case of an infant thought to have an extremely rare form of porphyria, called harderoporphyria (HARPO), was described in a recent report. The disease led to severe complications, and the infant died a few days after birth. The report, “Novel Biallelic Variants in CPOX Gene…

The seven-day Porphyria Awareness Week campaign kicks off May 12 to spread the word about porphyria and culminates with Global Porphyria Day on May 18, a Sunday. The theme of this year’s observance is “Think Porphyria,” according to the American Porphyria Foundation, which is joining forces with…

People with acute intermittent porphyria (AIP) often consume large amounts of simple sugars and fats, which may contribute to metabolic problems, such as being overweight or having high levels of bad cholesterol in their blood, a study reports. “Our study provided valuable insights into the metabolic aspects of AIP,…

A boy’s long medical odyssey, which eventually led to a diagnosis of congenital erythropoietic porphyria (CEP) but left the child with long-term disabilities, demonstrates the need for timely recognition of this rare form of porphyria, per a report from India. “This case report illustrates the complex and challenging journey…

The production of bile acids, which are molecules made by the liver to help with digestion, is dysregulated in people with acute intermittent porphyria (AIP), according to a recent study. Findings suggest the levels of certain bile acids may serve as an objective biological marker of AIP severity, and…

By combing through a database from the U.S. Food and Drug Administration (FDA), scientists in China have compiled a list of more than 50 medications that can trigger porphyria attacks. Their findings were reported in the study, “Drug-associated porphyria: a pharmacovigilance study,” published in the Orphanet Journal…

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…