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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…

A case series from Saudi Arabia highlights the challenges sometimes faced by women with acute intermittent porphyria (AIP) in getting a correct diagnosis — even with distinct clinical signs of acute neuropathy, or nerve damage. Indeed, five of the six women whose cases were detailed first received an incorrect…

A recent case report describes a rare instance of a woman diagnosed with both porphyria cutanea tarda (PCT) and systemic lupus erythematosus (SLE), an autoimmune disease. Her diagnosis was confirmed through laboratory tests and tissue biopsies. “The diagnosis of both pathologies becomes a challenge for physicians in diagnosis…

People with genetic mutations that cause acute hepatic porphyria (AHP) who have never experienced acute disease attacks are still at an elevated risk of showing subtle signs of the disease, a study found. Among undiagnosed first-degree family members of AHP patients, those who tested positive for a disease-causing mutation…

A woman in her 60s with fragile skin and blistering lesions on sun-exposed areas was diagnosed with porphyria cutanea tarda (PCT), the most common form of porphyria, alongside cutaneous sarcoidosis, a rare inflammatory skin condition, according to a case study from Canada. The woman was found to carry two…