Outcomes for children with congenital erythropoietic porphyria (CEP) have improved over the last few decades, and babies with CEP today are more likely to receive treatment that can improve their survival. That’s according to findings from a study, “Severe Perinatal Presentations of Günther’s Disease: Series of…
Treatment with the oral therapy bitopertin substantially increased sunlight tolerance for adults with erythropoietic protoporphyria (EPP) in a Phase 2 clinical trial, according to data on all its adult participants. The experimental treatment also significantly reduced levels of protoporphyrin IX (PPIX) and improved quality of life for most patients.
The International Porphyrias Symposium 2023, where experts discuss the latest research into porphyria, will be held later this week and will feature a day dedicated to people with the disease. The symposium, which is designed for clinicians who care for people with porphyria and scientists conducting research related…
An unusual case of acute intermittent porphyria (AIP) that was marked by seizures was described in a recent case report. “This case report is rare and suggests that for patients who experience epileptic seizures coupled with complaints related to the abdomen, the possibility of porphyria should be specially considered…
Scientists in Switzerland have reported the first documented case of acute intermittent porphyria (AIP) caused by a mosaic mutation — a genetic mutation that affected only a fraction of the patient’s cells. Their findings suggest that new mosaic mutations could potentially be the cause for acute porphyria in other…
Plasma exchange — a procedure that involves replacing the liquid portion of blood, not blood cells — effectively eased motor weakness and other symptoms for a teenager with acute porphyria. Prior to this, standard approaches for treating porphyria, including hemin, were attempted but did little to ease the patient’s…
Certain people with acute hepatic porphyria (AHP) living in British Columbia may now get full coverage of Givlaari (givosiran) through BC PharmaCare. BC PharmaCare is a publicly funded program in British Columbia that helps residents of the Canadian province pay for certain prescription drugs and some other…
A probiotic supplement led to improvements in blood sugar and insulin levels and increased heme production in a mouse model of acute intermittent porphyria (AIP). “These data provide a proof of concept that probiotics, as a dietary intervention in AIP, induce relevant changes in intestinal bacteria composition and improve…
An infant in Brazil who developed severe skin blistering after receiving a light-based therapy for jaundice, or yellowing of the skin, was found to have congenital erythropoietic porphyria (CEP) after a thorough diagnostic workup. “In publishing this case report, we aimed to pediatricians’ knowledge regarding [CEP],” the researchers wrote.
A screening program at emergency departments may help to more efficiently diagnose acute forms of porphyria, according to a recent study. “Screening for [acute porphyrias] in the [emergency department] is feasible and should be considered in all [emergency department] patients with (especially recurrent) abdominal pain of unclear origin,” the…
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