Patricia Inácio, PhD,  science writer—

A report described a case of variegate porphyria, a type of acute porphyria, in a 9-year-old girl who had several underlying medical conditions, including a severe form of epilepsy. The researchers noted that while variegate porphyria is not frequently seen in children, when it is it’s “associated with more…

People with acute hepatic porphyria (AHP) having recurrent attacks are burdened with chronic symptoms between those attacks, according to data from the natural history EXPLORE study. High disease burden was also observed in patients having fewer porphyria attacks — less than three in the absence of preventive treatment for…

A total of 30 patient advocacy groups working to further understanding and the needs of people living with rare diseases have been selected to receive a Horizon Therapeutics‘ #RAREis Global Advocate Grant. Winners of this year’s inaugural awards are spread across nine countries and represent a total of 29 rare…

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…