News

Treatment with bitopertin, an oral therapy from Disc Medicine, led to increased sunlight tolerance and improved quality of life for people with erythropoietic protoporphyria (EPP) in the Phase 2 BEACON trial, preliminary data show. Levels of protoporphyrin IX (PPIX), the molecule that builds up to toxic levels in EPP…

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:…

A 72-year-old woman with acute intermittent porphyria (AIP) developed a type of liver cancer that arose nearly 30 years after her original porphyria diagnosis, a case study from Italy reported. “Our case report strongly suggests that punctual and serial laboratory and instrumental surveillance is necessary for acute hepatic…

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,…

Women with acute hepatic porphyria (AHP) were at a higher risk of developing high blood pressure and diabetes during pregnancy than their healthy counterparts, and their babies were more likely to be born small, according to a Swedish study. Those with acute intermittent porphyria (AIP) — the most common…

A man in his 40s with a history of acute intermittent porphyria (AIP) had an attack triggered by a COVID-19 infection after two years without any episodes, according to researchers. The AIP attack was complicated by rhabdomyolysis, a serious condition in which muscles break down. While the patient recovered…

MT-7117 (dersimelagon), an investigational oral therapy from Mitsubishi Tanabe Pharma, safely reduced sunlight sensitivity and improved quality of life in people with erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) — two types of cutaneous porphyria, which primarily affects the skin — in a Phase 2 trial. Findings from…

For this year’s Porphyria Awareness Week (PAW), running April 15-22, the American Porphyria Foundation (APF) is putting a spotlight on those individuals with a rare genetic disease that falls under the disorder’s umbrella. The goal is to increase awareness of porphyria among the public, as well as advocate…