News

Skin damage in variegate porphyria (VP) is worsened by impaired formation of the protective outer skin layers, according to a study using skin cells. The study, “Reduced PPOX expression causes intrinsic pathogenicity in keratinocytes, contributing to the cutaneous Variegate Porphyria phenotype,” was published in the Journal…

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…

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…

Hundreds of patients in Japan with unexplained abdominal pain go untested for acute hepatic porphyria (AHP), despite showing a number of the condition’s hallmark symptoms, a study suggests. Among those who remained undiagnosed after an evaluation at a hospital for abdominal pain, all had two to four characteristic features of…

The case of a 43-year-old woman with variegate porphyria (VP) who developed acute psychosis despite no prior psychiatric history highlights a less common manifestation of this rare metabolic disorder, according to a new report from clinicians in Europe. While VP usually causes skin sensitivity, abdominal pain, and high blood…

Sudden delusions and paranoia experienced by a 41-year-old woman without a psychiatric history were triggered by an undiagnosed case of acute intermittent porphyria (AIP), according to a case report. The woman was treated with an antipsychotic medication, which completely resolved her psychiatric symptoms. “This case highlights the complexity of…