Surgical removal of the spleen effectively eased the signs and symptoms of severe congenital erythropoietic porphyria (CEP) in a 10-year-old boy with recurrent nose bleeds, according to a recent case report. “Our patient’s repeated [nose bleeds] is a rare and unreported clinical manifestation of this illness,” the scientists wrote.
A 33-year-old pregnant woman experiencing severe abdominal pain shortly before delivery and showing worsening neurological symptoms thereafter was misdiagnosed with several conditions before an acute intermittent porphyria (AIP) diagnosis was confirmed, according to a case report from Saudi Arabia. “[Neurologic] porphyria is an easily missed entity due to its…
Treatment with the oral therapy bitopertin substantially increased sunlight tolerance for adults with erythropoietic protoporphyria (EPP) in a Phase 2 clinical trial, according to data on all its adult participants. The experimental treatment also significantly reduced levels of protoporphyrin IX (PPIX) and improved quality of life for most patients.
Treatment with Givlaari (givosiran) successfully resolved acute attacks of acute intermittent porphyria (AIP) in a 36-year-old woman who had been experiencing recurrent bouts of abdominal pain over the prior three years. According to researchers, this is the first report supporting the use of Givlaari “as an effective therapeutic…
A rarely reported mutation in the HMBS gene was identified as the cause of recurrent, hard-to-treat episodes of acute intermittent porphyria (AIP) in a young Mexican woman, according to a case report. While it’s unclear whether the mutation is linked to a more severe clinical presentation, its identification “underscores…
Disc Medicine has been granted a U.S. patent for treating erythropoietic protoporphyrias (EPPs) with glycine transport inhibitors, such as its investigational oral therapy bitopertin. “We are pleased to have been issued this patent that further secures [intellectual property] protection for bitopertin for the treatment of erythropoietic protoporphyria as…
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…
A high financial burden is associated with acute hepatic porphyria (AHP) — one particularly driven by hospitalization and medical costs to manage disease attacks — a new study found. Also adding to the financial burden was time off work due to AHP, which averaged about two months per year…
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…
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