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…
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…
An infant in Brazil who developed severe skin blistering after receiving a light-based therapy for jaundice, or yellowing of the skin, was found to have congenital erythropoietic porphyria (CEP) after a thorough diagnostic workup. “In publishing this case report, we aimed to pediatricians’ knowledge regarding [CEP],” the researchers wrote.
Acute intermittent porphyria (AIP) doesn’t appear to be strongly associated with Takotsubo cardiomyopathy, a temporary condition marked by stress-induced heart muscle weakness, a study shows. Despite the potential connection between the two conditions, the incidence of the heart condition triggered by AIP is estimated to be one in 10,000.
A 77-year-old man with porphyria cutanea tarda (PCT), the most common form of porphyria, was diagnosed with adult-onset hereditary hemochromatosis, a condition marked by iron overload that can be associated with PCT. He was successfully treated with antibiotic skin creams and regular therapeutic blood letting (phlebotomy) to remove excess…
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