Lindsey Shapiro, PhD,  science writer—

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…

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’…

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 European Medicines Agency (EMA) committee has recommended that Scenesse (afamelanotide) be designated an orphan drug for the treatment of light sensitivity in people with variegate porphyria (VP). The implantable medication by Clinuvel is approved in the U.S. and European Union (EU) to treat people…

The case of a young woman with recurrent abdominal pain who was diagnosed with acute intermittent porphyria (AIP) underscores the difficulties  diagnosing a rare disease that sometimes has vague and variable symptoms, said researchers in a recent case report. The woman’s menstrual cycle was a trigger for the pain…

The BEACON and AURORA Phase 2 clinical trials testing the investigational oral therapy bitopertin in people with erythropoietic porphyrias have completed enrollment, according to an update from therapy developer Disc Medicine. BEACON (ACTRN12622000799752), which began enrolling adults with erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) at sites…

A man with erythropoietic protoporphyria (EPP) and severe liver disease successfully underwent a rare, live-donor liver transplant with his wife as the donor of a portion of the organ, according to a recent case report. Special precautions, including light protection and medication adjustments, were taken due to the man’s…

Clinuvel has been awarded a five-year contract with the U.S. Department of Veterans Affairs (VA) to supply Scenesse (afamelanotide) for the treatment of adults with erythropoietic protoporphyria (EPP). The implantable medication has been listed on the Federal Supply Schedule, a government-wide contract with commercial companies to provide…

Years of monthly treatment with Givlaari (givosiran) continued to be associated with sustained reductions in acute disease attacks and on-demand hemin use among people with active acute hepatic porphyria (AHP) in a Phase 3 clinical trial. Final, three-year results from the ENVISION study (NCT03338816)  and its open-label…

A recent case report highlights the extremely rare occurrence of two diseases — acute intermittent porphyria (AIP) and systemic lupus erythematosus (SLE), an autoimmune disease — in a young woman who was eventually diagnosed through lab work, biopsies, and genetic testing. The report adds to the limited body…