News

A new mutation in the HMBS gene was identified as the cause of acute intermittent porphyria (AIP) in a woman, and also detected in her daughter, who showed no symptoms of the disease, according to a study in China. The mutation was found to affect splicing — the process…

Scientists in Switzerland have reported the first documented case of acute intermittent porphyria (AIP) caused by a mosaic mutation — a genetic mutation that affected only a fraction of the patient’s cells. Their findings suggest that new mosaic mutations could potentially be the cause for acute porphyria in other…

People with acute intermittent porphyria (AIP) who have high levels of porphyrin precursors in the urine are more likely to develop primary liver cancer, according to a new study that also found the risks are higher for these AIP patients after age 65. “Individualized PLC [primary liver cancer] risk…

A middle-aged woman with signs of porphyria cutanea tarda (PCT), the most common form of porphyria, was diagnosed with hereditary hemochromatosis, a disorder associated with PCT and marked by iron overload. The case report “illustrates the challenge in diagnosing PCT but also aims to highlight the association between…

In a rare case, a young woman in Illinois experienced a porphyria attack and began developing symptoms of acute hepatic porphyria (AHP) a few days after having a progestin birth control implant placed inside her left arm, according to a new report. The clinicians noted that AHP has rarely…

Plasma exchange — a procedure that involves replacing the liquid portion of blood, not blood cells — effectively eased motor weakness and other symptoms for a teenager with acute porphyria. Prior to this, standard approaches for treating porphyria, including hemin, were attempted but did little to ease the patient’s…

Certain people with acute hepatic porphyria (AHP) living in British Columbia may now get full coverage of Givlaari (givosiran) through BC PharmaCare. BC PharmaCare is a publicly funded program in British Columbia that helps residents of the Canadian province pay for certain prescription drugs and some other…

A probiotic supplement led to improvements in blood sugar and insulin levels and increased heme production in a mouse model of acute intermittent porphyria (AIP). “These data provide a proof of concept that probiotics, as a dietary intervention in AIP, induce relevant changes in intestinal bacteria composition and improve…

Cosentyx (secukinumab) — a treatment approved for a skin condition called psoriasis — successfully treated both that disorder and porphyria cutanea tarda (PCT), the most common form of porphyria, in a 65-year-old woman, a case study shows. Subsequently stopping Cosentyx, which works by blocking the pro-inflammatory molecule IL-17, led…

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…