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…
Suppressing Wnt/beta-catenin — a signaling pathway that plays a key role in liver health — significantly reduced liver damage and the porphyrin deposits whose accumulation cause porphyria in a mouse model of the disease, a study shows. Notably, these beneficial effects were associated with lower levels of enzymes involved in…
A family with a new hereditary coproporphyria (HCP) mutation having frequent, severe attacks and blood clots was described in a new case report. The report, “High penetrance, recurrent attacks and thrombus formation in a family with hereditary coproporphyria,” was published in JIMD Reports. HCP is the rarest…
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 Russian military plane crash near Tetiana Zamorska’s home in Kyiv, Ukraine, was a sign that it was time for her and her family to leave. The treacherous, 34-hour pilgrimage that ultimately brought the group of eight by car to temporary accommodations in neighboring Poland last month was physically and emotionally difficult,…
Phlebotomy, or regular rounds of blood letting, eased symptoms of liver injury in three people with erythropoietic protoporphyria (EPP), according to a small study. Besides supporting the utility of phlebotomy in treating this patient population, study findings suggest a potential role for the ABCG2 protein in the mechanisms that…
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…
The European Commission is expected to propose a new governing framework for health data next month, called the European Health Data Space (EHDS), with the aim of connecting national health systems to facilitate secure and efficient transfer of data across systems in different European nations. The move is expected to…
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…
The National Organization for Rare Disorders (NORD) has updated its State Report Card to make it more digitally friendly and added telehealth to its categories of rare disease policy issues in a nod to its increased use during the ongoing COVID-19 pandemic. NORD’s report card project began seven…
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