News

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.

Acute intermittent porphyria (AIP) doesn’t appear to be strongly associated with Takotsubo cardiomyopathy, a temporary condition marked by stress-induced heart muscle weakness, a study shows. Despite the potential connection between the two conditions, the incidence of the heart condition triggered by AIP is estimated to be one in 10,000.

A 77-year-old man with porphyria cutanea tarda (PCT), the most common form of porphyria, was diagnosed with adult-onset hereditary hemochromatosis, a condition marked by iron overload that can be associated with PCT. He was successfully treated with antibiotic skin creams and regular therapeutic blood letting (phlebotomy) to remove excess…

A recent case report highlights the extremely rare occurrence of two diseases — acute intermittent porphyria (AIP) and systemic lupus erythematosus (SLE), an autoimmune disease — in a young woman who was eventually diagnosed through lab work, biopsies, and genetic testing. The report adds to the limited body…

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 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…