Patricia Inácio, PhD, science writer —

A large proportion of people with acute intermittent porphyria (AIP) may still be undiagnosed in China, according to a recent study — and without a proper diagnosis, they’re not receiving needed treatment, researchers say. “More nationwide epidemiological surveys and study of the prevalence rate of AIP patients in China are…

A report has described for the first time the case of a patient having an acute intermittent porphyria (AIP) attack following treatment with oseltamivir, an oral antiviral medication commonly prescribed for treating the flu. The report, “Acute intermittent porphyria: is oseltamivir safe in these patients?,” was published in…

A high-dose regimen of hydroxychloroquine given over a short period of time can successfully treat porphyria cutanea tarda (PCT), according to a recent case report. The report, “Porphyria cutanea tarda treated with short-term high-dose hydroxychloroquine: a case report,” was published in AME Case Reports. …

A new mutation in the FECH gene was identified as the cause of erythropoietic protoporphyria in a 14-year-old Japanese boy, as described in a recent study. The case report was published in the form of a letter to the editor in The Journal of…

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…