Many with unexplained abdominal pain go untested for AHP

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…

Sometimes in patient advocacy, a great event means planning everything down to the minute: logistics, panel preparations, seating charts, and more. At other times, I find myself backstage with seven teenagers and wonder, “What was I thinking?” Last month, something truly special happened in Boston. A group of extraordinary young…

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…

Note: This column describes the author’s own experiences with various mental health medications. Not everyone will have the same response to treatment. Consult your doctor before starting or stopping a therapy. In July 2020, prior to my diagnosis of acute intermittent porphyria (AIP), I was prescribed Prozac (fluoxetine)…

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…

Growing up, whenever I’d go to the doctor with my mom, she’d inform them that she had porphyria. But even though the condition has affected several generations on her side of the family, and my mom was once hospitalized for more than three months because of a porphyria attack,…

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…