Patricia Inácio, PhD, science writer —

An 18-year-old woman developed skin lesions associated with variegate porphyria (VP) — a type of acute porphyria — after having a progesterone birth control device called Nexplanon implanted under her skin. According to the researchers, this is the first reported case of variegate porphyria triggered by a progesterone-release birth…

Vitamin D supplements can increase the levels of that vitamin in the blood of patients with erythropoietic protoporphyria (EPP), a Danish study reports. However, a fraction of EPP patients have persistently low levels of vitamin D, highlighting the need for close follow-up and monitoring. The study, “The effect…

A previously identified mutation in the PPOX gene in a Moroccan Jewish population may cause variegate porphyria by impairing the correct 3D folding of the PPOX enzyme. Incorrectly folded, the activity of the mutated enzyme was severely impaired. The study, “Molecular characterization of a novel His333Arg variant of…

The Canadian Agency for Drugs and Technology in Health, called CADTH, has recommended that Givlaari (givosiran) be reimbursed by public plans — if certain conditions are met — when it’s used to treat adults with acute hepatic porphyria (AHP). One condition, according to CADTH, is that the therapy’s…

Recurrent attacks in people with acute hepatic porphyria (AHP) are associated with lower lifetime earnings and pose a higher burden to public health, particularly in disability and healthcare costs, a Belgian study reports. Indeed, the costs of lifetime healthcare for patients in Belgium who are unable to work due…

The prevalence of advanced liver disease — including fatty liver disease — in patients with erythropoietic protoporphyria (EPP) is similar to that of the general population, according to a new Dutch study. Investigators also noted that the levels of protoporphyrin IX or PPIX, a heme precursor that tends…

Complaints of abdominal pain with no apparent cause during physical examination, accompanied by neuropsychiatric symptoms such as confusion and agitation, may be indicative of an acute porphyria attack, according to a recent case report. The study highlighted the importance of promptly performing urine screening tests and starting treatment…

Disc Medicine has entered into an exclusive worldwide licensing agreement to develop and commercialize Roche’s bitopertin, an oral candidate therapy for blood disorders. Disc will initially develop bitopertin for erythropoietic porphyrias, a group of porphyrias that mainly affect red blood cells and bone marrow. The company is planning…

Three women in Nepal were diagnosed with the rarest type of porphyria, called congenital erythropoietic porphyria or CEP, as described in a recent case report. Genetic analyses revealed the presence of a rare mutation in the UROS gene, one of the two genes underlying CEP, in two of…

Ahead of this year’s Rare Disease Week on Capitol Hill, held virtually July 14–22, the EveryLife Foundation will award grants to top advocates of rare disease organizations who participate in the week’s pre-events. The top 50 point-earners will be eligible to win $1,000 to $5,000in  grants, totaling up…