Marisa Wexler, MS, senior science writer —

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…

Treatment with the implantable medication Scenesse (afamelanotide), which is approved to help reduce light intolerance in people with erythropoietic protoporphyria (EPP), also may help to reduce liver damage associated with the disease. That finding, in the study “Afamelanotide Is Associated with Dose-Dependent Protective Effect from Liver…

When patients have unusual sunlight sensitivity combined with liver damage, the possible diagnosis of erythropoietic protoporphyria (EPP) should be considered, a recent study highlights. “Although rare, EPP is an important cause of nonblistering, cutaneous [skin] photosensitivity that may lead to hepatic [liver] involvement. Awareness and appropriate diagnostic work-up is…

Four cases of children diagnosed with porphyria were described in a recent report where researchers highlighted that, while porphyria is commonly considered an adult disease, it’s important for clinicians to consider it as a possible diagnosis in children to facilitate proper management. The study, “Porphyrias:…

For a teenage boy in Japan, it wasn’t until getting a second liver biopsy — nearly three years after his initial one — that he was accurately diagnosed with erythropoietic protoporphyria (EPP). This case highlights that “EPP should be considered in young patients with unexplained liver dysfunction, skin symptoms,…