When my son Brady was diagnosed with erythropoietic protoporphyria in 2009, I had no idea that my extended family would grow to include so many people affected by all types of porphyria. Over the years, I’ve learned more than I ever imagined about these diseases, as well as the…
A man with genetically confirmed porphyria was treated for blocked heart arteries using stents — thin, mesh-like tubes — that slowly release medication inside the coronary arteries supplying the heart to keep the blood vessels open, according to a report. The stents, coated with everolimus or sirolimus, two drugs…
Acute intermittent porphyria (AIP) attacks triggered by surgery can easily be confused with typical postoperative complications, a case report showed. A 34-year-old woman had abdominal pain and low blood sodium levels after gallbladder removal surgery. Doctors initially suspected postoperative complications, but the woman revealed she’d had previous attacks of…
Adults and adolescents with erythropoietic protoporphyria (EPP) reported a significant detrimental impact of the disease on their health-related quality of life (HRQoL), as well as their social and psychosocial well-being, a new study reports. Nearly two-thirds of adults and almost all adolescents reported limitations in their daily activities, while…
Porphyria attacks can be triggered by a number of factors, which may vary depending on the individual and the type of porphyria. For instance, people with acute hepatic porphyria (AHP) are often advised to avoid alcohol, smoking, physical or emotional stress, and certain medications, which may trigger a life-threatening…
A combination of skin and liver problems in a young person should prompt doctors to suspect erythropoietic protoporphyria (EPP), according to a case report about a woman who’d had signs of sun sensitivity related to EPP since childhood that had gone undiagnosed. By the time she reached the researchers’…
The case of an infant thought to have an extremely rare form of porphyria, called harderoporphyria (HARPO), was described in a recent report. The disease led to severe complications, and the infant died a few days after birth. The report, “Novel Biallelic Variants in CPOX Gene…
For a woman with erythropoietic protoporphyria (EPP) in China, the first symptoms did not involve the skin, as is typical, but rather the liver, drawing doctors’ attention to an unusual presentation of the disease. “Timely identification of EPP not only facilitates appropriate management, but may also prevent irreversible hepatic…
When living with a rare disorder, it is crucial to understand what is happening within your body. This not only allows you to recognize when your symptoms are about to flare, but it can also ensure you get proper and timely treatment. I was diagnosed with porphyria in October…
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