Supplements of bacteria-derived lipoteichoic acid and alpha-lipoic acid — an insulin sensitizing compound — may help improve blood sugar control and the body’s response to insulin during a high-carbohydrate diet for acute intermittent porphyria (AIP), according to a study in mice. The study, “Oral lipoteichoic and lipoic acids…
A liver biopsy helped doctors diagnose a 75-year-old man who arrived at the hospital with abdominal pain and jaundice (yellowing of the skin and eyes) with protoporphyria, a type of porphyria. He recovered without treatment as his liver function improved spontaneously, according to a case report. “This report highlights…
Disc Medicine has received a Commissioner’s National Priority Voucher from the U.S. Food and Drug Administration (FDA) following its submission of a new drug application seeking accelerated approval of bitopertin, an investigational oral small molecule being developed for the treatment of erythropoietic protoporphyria (EPP) in patients ages…
A man with genetically confirmed porphyria was treated for blocked heart arteries using stents — thin, mesh-like tubes — that slowly release medication inside the coronary arteries supplying the heart to keep the blood vessels open, according to a report. The stents, coated with everolimus or sirolimus, two drugs…
For a woman with erythropoietic protoporphyria (EPP) in China, the first symptoms did not involve the skin, as is typical, but rather the liver, drawing doctors’ attention to an unusual presentation of the disease. “Timely identification of EPP not only facilitates appropriate management, but may also prevent irreversible hepatic…
A woman in her 20s was diagnosed with acute hepatic porphyria (AHP) after experiencing seizures and visual hallucinations due to a condition known as PRES, or unilateral posterior reversible encephalopathy syndrome — which causes swelling in one side of the brain — and muscle weakness due to neuropathy, or…
Heavy alcohol use and hepatitis C, a viral infection that can cause damage to the liver, may have triggered porphyria cutanea tarda, a common form of porphyria that manifests as painful lesions on sun-exposed skin areas, usually in late adulthood, in a 59-year-old man in Indianapolis. “The distinctive [skin]…
Patients are very satisfied with Givlaari (givosiran), the only approved treatment that targets the cause of acute hepatic porphyria (AHP) to help reduce attacks, according to a new study based on interviews with more than 20 people with AHP in the U.S. and Europe. Indeed, these AHP patients —…
Note: This story was updated Nov. 4, 2024, to correct that Givlaari was given via subcutaneous injections, not through infusions. Upper body pain and muscle weakness led to a misdiagnosis of Parsonage-Turner syndrome (PTS) for a woman in France who was later found to have acute…
An iron infusion for persistently low levels of hemoglobin, or the iron-containing protein that carries oxygen in red blood cells, triggered a sudden attack of erythropoietic protoporphyria (EPP) in a 28-year-old British man. Managing the disease required avoiding triggers as well as receiving ongoing care to prevent future flares…
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