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…
I used to be a distance runner. More accurately, I used to be a runner of a very defined distance. For years, I tried completing marathon training schedules, only to top off at about 16 or 17 miles. I could build endurance and strength, but I always seemed to…
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…
In just a few days, our son Brady will be graduating from high school as part of the Class of 2023. It feels as though my heart will be wearing a cap and gown, crossing a stage, and accepting a well-deserved diploma. On a typical day, Brady’s passing wink and…
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:…
With the release of Netflix’s “Queen Charlotte: A Bridgerton Story” on May 4, it seems like everyone’s talking about acute porphyria. “Queen Charlotte” explores a queen’s role in supporting a king whose mental illness is a nation’s secret. King George III is known for losing the American colonies…
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,…
Many aspects of life with acute hepatic porphyria (AHP) are a difficult adjustment. It was hard to get my diagnosis and accept that I’d have frequent attacks. It was hard to deal with periodic hospitalizations and medical PTSD. But it was only when I realized I…
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…
Get regular updates to your inbox.
