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A liver biopsy helped doctors diagnose a 75-year-old man who arrived at the hospital with abdominal pain and jaundice (yellowing of the skin and eyes) with protoporphyria, a type of porphyria. He recovered without treatment as his liver function improved spontaneously, according to a case report. “This report highlights…

Testing umbilical cord blood can help identify newborns with undiagnosed erythropoietic protoporphyria (EPP) or X-linked protoporphyria (XLP), two inherited forms of porphyria marked by extreme sensitivity to light, according to a small study from the U.K. While symptoms of these diseases generally emerge at 1 year of age, extremely…

Disc Medicine has received a Commissioner’s National Priority Voucher from the U.S. Food and Drug Administration (FDA) following its submission of a new drug application seeking accelerated approval of bitopertin, an investigational oral small molecule being developed for the treatment of erythropoietic protoporphyria (EPP) in patients ages…

PORT-77, an oral small molecule therapy being developed to treat erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP), by Gondolabio through its affiliate Portal Therapeutics, has been granted both orphan drug and fast track status by the U.S. Food and Drug Administration (FDA). Orphan drug designation supports therapies for rare…

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…