Acute hepatic porphyria (AHP) is more commonly seen in women in Denmark, with acute intermittent porphyria (AIP) the the most frequent subtype. That’s according to a recent study that also found that patients with high levels of porphobilinogen, a porphyrin precursor that builds up to toxic levels in AHP…
Two siblings with a rare form of variegate porphyria (VP) who had skin lesions caused by light or sun exposure and neurodevelopmental symptoms were described in a study from Germany that also reviewed all the other cases in the literature until 2023. Both had epileptic seizures, developmental delays, and…
Alnylam Act, a sponsored genetic testing program developed by Alnylam Pharmaceuticals and now under the management of Preventiongenetics, is offering free services for certain people in the U.S. and Canada suspected of having acute hepatic porphyria (AHP). Through the program, genetic testing and counseling are offered at…
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…
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…
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…
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…
Undiagnosed hereditary hemochromatosis in a 34-year old woman played a key role in her developing porphyria cutanea tarda (PCT), according to a case report. The woman was treated with therapeutic phlebotomy, or bloodletting, to remove excess iron from the blood, which significantly eased her symptoms. Hereditary hemochromatosis is a…
Vitamin D plays a crucial role in maintaining and enhancing bone mineral density in people with erythropoietic protoporphyria (EPP), according to a study from the Netherlands. EPP patients in the study had high prevalence of osteopenia, or lower-than-normal bone density, and osteoporosis, a more severe form of bone loss.
Get regular updates to your inbox.