News

Acute intermittent porphyria (AIP) manifests in a variety of ways, but in China, the most common symptoms are abdominal pain and problems resulting from damage to the brain and spinal cord, a review study has found. Nearly all Chinese patients with AIP — about 95% — experienced abdominal pain,…

A 20-year-old Chinese woman experiencing bouts of abdominal pain and seizures eventually was diagnosed with acute intermittent porphyria (AIP), the most common form of acute porphyrias, after a series of tests. Her case highlights that “it is essential to consider acute intermittent porphyria diagnosis in patients having unexplained severe…

Treatment with cimetidine, an over-the-counter (OTC) medication normally used to treat heartburn, may help children with erythropoietic protoporphyria (EPP) build tolerance to sunlight — and this may translate into better quality of life — according to reports of EPP cases in Italy. “Based on the literature and our clinical…

Throughout 2023, Porphyria News Today has brought you coverage of the latest developments in scientific research and treatment for porphyria. Here’s a  brief look at the 10 most-read articles we published last year. We hope our stories in 2023 helped to inform and improve the lives of those…

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…