A new mutation in the HMBS gene was identified as the cause of acute intermittent porphyria (AIP) in a 22-year-old woman in China, according to a recent study. The mutation was found to affect splicing — the process that allows the coding regions of a gene to be joined…
People with acute intermittent porphyria (AIP) have high levels of three markers of kidney and liver injury in their blood, suggesting these could potentially serve as early biomarkers to mitigate damage, a recent study reports. Levels of these markers — KIM-1, FABP-1, and alpha-GST — were found to be…
Researchers in Italy hope to help clinicians more quickly recognize acute intermittent porphyria (AIP) in their case report of a young woman who saw her condition severely worsen after years of delayed diagnosis. The woman had a history of psychiatric issues and abdominal pain, and then developed neurological symptoms,…
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…
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…
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…
A 72-year-old woman with acute intermittent porphyria (AIP) developed a type of liver cancer that arose nearly 30 years after her original porphyria diagnosis, a case study from Italy reported. “Our case report strongly suggests that punctual and serial laboratory and instrumental surveillance is necessary for acute hepatic…
People in Brazil with acute hepatic porphyria (AHP) have a high prevalence of chronic symptoms and a poor quality of life, a retrospective registry study has found. This new work also reported a higher proportion of patients with recurrent attacks compared with previous studies. “Our study fortifies the knowledge…
An early diagnosis and treatment for acute intermittent porphyria (AIP) might have prevented severe complications in a 21-year-old woman, according to a U.K. case report. The researchers noted the nonspecific symptoms of porphyria attacks may make the diagnosis difficult. However, recurrent abdominal pain, low sodium levels in the blood,…
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