News

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…

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…

An online health education program significantly reduced acute attacks, boosted mental health, and improved quality of life for people with acute intermittent porphyria (AIP), a study reported. The researchers said the findings “hold important clinical significance for broader application.” The study, “Effects of internet-based health education on patients…

Abdominal pain accompanied by nausea and vomiting, and a red-brownish urine could be indicative of acute hepatic porphyria (AHP), a case report suggests. The symptoms’ presence means physicians should “consider the rare diagnosis of porphyria so that appropriate and timely treatment can be rendered and genetic screening of family…

The production of bile acids, which are molecules made by the liver to help with digestion, is dysregulated in people with acute intermittent porphyria (AIP), according to a recent study. Findings suggest the levels of certain bile acids may serve as an objective biological marker of AIP severity, and…

The incidence of liver cancer is highest among adults with acute hepatic porphyrias (AHPs) who are older, female, symptomatic, and diagnosed with acute intermittent porphyria (AIP), one of the most common AHP subtypes. Those are the results of a pooled analysis of published studies conducted by a team of…