The International Porphyrias Symposium 2023, where experts discuss the latest research into porphyria, will be held later this week and will feature a day dedicated to people with the disease. The symposium, which is designed for clinicians who care for people with porphyria and scientists conducting research related…
News
An unusual case of acute intermittent porphyria (AIP) that was marked by seizures was described in a recent case report. “This case report is rare and suggests that for patients who experience epileptic seizures coupled with complaints related to the abdomen, the possibility of porphyria should be specially considered…
Different mutations in the HMBS gene — the cause of acute intermittent porphyria (AIP) — are not associated with distinct activity levels of the resulting enzyme but generally reduce its levels by about half, a review study has found. About 90% of AIP patients have reduced activity levels of…
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…
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