A 26-year-old man who developed seizures, muscle weakness, and abdominal pain was eventually diagnosed with acute intermittent porphyria (AIP), a Chinese study reports. The patient was initially diagnosed with posterior reversible encephalopathy syndrome (PRES), a rare condition marked by swelling in the brain, but a biochemical and genetic analysis later…
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]…
A 15-year-old girl who developed seizures and changes in her mental health status was diagnosed with acute intermittent porphyria (AIP) associated with encephalopathy, or changes in brain function, a U.S. study reports. The clinicians noted her initial presentation was confusing with apparently unrelated symptoms. However, the girl did show…
Multiple testing and specialist appointments are often needed for diagnosing erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP), and both conditions are frequently associated with significant healthcare costs. That’s according to a real-world study that analyzed the medical records of EPP and XLP patients in the U.S. The patients waited about…
People with porphyria cutanea tarda (PCT), the most common form of porphyria, may be at a higher risk of heart attacks, blood clot-related complications, and other cardiovascular conditions, underscoring the need for early screening and targeted treatment, a retrospective study from the U.S. suggests. According to researchers, “physicians can consider…
A 17-year-old girl was eventually diagnosed with acute intermittent porphyria (AIP) after experiencing several episodes of intense abdominal pain, gastrointestinal issues, and seizure-like activity, according to a report in the U.S. “This case highlights the diagnostic complexities and treatment challenges that patients with AIP face when navigating this challenging…
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 —…
A newborn boy with low muscle tone, and breathing and feeding problems during his first days of life was diagnosed with delta-aminolevulinic acid dehydratase (ALAD) deficiency porphyria after undergoing whole genome sequencing, according to a recent report. This was the third reported case of infantile-onset ALAD deficiency porphyria, an…
A newly developed treatment to prevent phototoxicity, or light-induced skin damage, was found effective in a mouse model of erythropoietic protoporphyria (EPP), a common form of porphyria marked by skin hypersensitivity to sunlight and some types of artificial light, a study showed. The novel oral therapy is designed to block ABCG2, a transporter…
In a real-world study in Germany, Givlaari (givosiran) was found to effectively prevent severe acute attacks and reduce chronic health burden in people with acute intermittent porphyria (AIP) — patients who are commonly excluded from porphyria studies and who would have been ineligible to participate in the…
Get regular updates to your inbox.