Steve Bryson, PhD,  science writer—

Disc Medicine has been granted a U.S. patent for treating erythropoietic protoporphyrias (EPPs) with glycine transport inhibitors, such as its investigational oral therapy bitopertin. “We are pleased to have been issued this patent that further secures [intellectual property] protection for bitopertin for the treatment of erythropoietic protoporphyria as…

A high financial burden is associated with acute hepatic porphyria (AHP) — one particularly driven by hospitalization and medical costs to manage disease attacks — a new study found. Also adding to the financial burden was time off work due to AHP, which averaged about two months per year…

A middle-aged woman with signs of porphyria cutanea tarda (PCT), the most common form of porphyria, was diagnosed with hereditary hemochromatosis, a disorder associated with PCT and marked by iron overload. The case report “illustrates the challenge in diagnosing PCT but also aims to highlight the association between…

Acute intermittent porphyria (AIP) doesn’t appear to be strongly associated with Takotsubo cardiomyopathy, a temporary condition marked by stress-induced heart muscle weakness, a study shows. Despite the potential connection between the two conditions, the incidence of the heart condition triggered by AIP is estimated to be one in 10,000.

A 77-year-old man with porphyria cutanea tarda (PCT), the most common form of porphyria, was diagnosed with adult-onset hereditary hemochromatosis, a condition marked by iron overload that can be associated with PCT. He was successfully treated with antibiotic skin creams and regular therapeutic blood letting (phlebotomy) to remove excess…

People with acute hepatic porphyria (AHP) have an increased risk of kidney cancer, chronic kidney disease, and high blood pressure, a large-scale Swedish study found. AHP patients don’t have a higher risk of non-liver cancers in general, heart-related diseases, or severe psychiatric disorders, however, according to researchers, who recommended…

For people with cyclic vomiting syndrome (CVS) — a condition whose symptoms significantly overlap those of porphyria — a long disease duration, taking very hot showers/baths to alleviate symptoms, and having co-existing conditions, all are clinical features to prompt genetic testing for acute porphyria, according to a new…

Heme, a molecule crucial for several biological processes, is transported from sites of production or storage for use in cells with the help of a protein called TANGO2, a team of researchers have discovered. Because TANGO2 ensures heme is available for use — and that it does not accumulate…

Impairments in endothelial cells — those that line blood vessels — are more likely to be found in people with severe acute hepatic porphyria who have active symptoms than among those without signs of the disease, a study revealed. Abnormal levels of biomarkers that reflect endothelial cell impairment also…

Almost all people with severe, recurrent acute intermittent porphyria (AIP) were free from symptomatic attacks after treatment with Givlaari (givosiran), a small real-world study showed. Givlaari “drastically reduced the attack rate in our cohort, as 96% were attack-free at the time of the study,” the researchers wrote. Early…