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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…

The difficulty of diagnosing acute intermittent porphyria (AIP) due to its overlap of symptoms of other conditions, such as chronic cannabis use or eating disorders, was shown in a recent case report about a 15-year-old girl. The girl arrived at the hospital with severe vomiting, stomach pain, and psychiatric…

A longer delay in the diagnosis of erythropoietic protoporphyria (EPP) is associated with a negative impact on patients’ lives, particularly at the emotional level, according to a recent study in the U.S. However, the severity of EPP-related light sensitivity was not significantly associated with the length of diagnostic delay…

A combined liver and kidney transplant successfully treated a woman with a 20-year history of severe symptoms of acute intermittent porphyria (AIP), including end-stage kidney disease, according to a case report from Germany. The report, “Successful Pregnancy After Combined Liver and Renal Transplantation in a Patient…