A woman with premenstrual pain and a brain condition called posterior reversible encephalopathy syndrome (PRES) was eventually diagnosed with acute intermittent porphyria (AIP), as described in a recent case report. “In patients with AIP and PRES, seizures are probably the most noticeable nervous system dysfunction during acute attacks,” the…
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…
Five years of standard treatment did not slow the progression of congenital erythropoietic porphyria (CEP) — the rarest type of porphyria, marked by severe light sensitivity — in a young man in Armenia, according to a study on the first reported case of the condition in that country. For…
Outcomes for children with congenital erythropoietic porphyria (CEP) have improved over the last few decades, and babies with CEP today are more likely to receive treatment that can improve their survival. That’s according to findings from a study, “Severe Perinatal Presentations of Günther’s Disease: Series of…
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,…
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…
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