Givlaari effective in AIP patients often excluded from clinical trials

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…

The pain of an acute intermittent porphyria (AIP) attack is almost unbearable. It feels like someone is squeezing my right side with their fingernails, and it won’t stop. It has to stop. I almost can’t take it anymore. “Yes, I can!” I say to myself. I can get through…

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…

As Thanksgiving approaches, I find myself reflecting on the concept of gratitude — not the surface-level kind we often recite out of habit, but the kind born out of adversity. Living with porphyria, or loving someone who does, can feel like navigating a storm. Yet it’s in the storm…

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…

Note: This story was updated Nov. 4, 2024, to correct that Givlaari was given via subcutaneous injections, not through infusions. Upper body pain and muscle weakness led to a misdiagnosis of Parsonage-Turner syndrome (PTS) for a woman in France who was later found to have acute…

I recently had the honor of attending the National Organization for Rare Disorders (NORD) Breakthrough Summit in Washington, D.C., on behalf of the United Porphyrias Association (UPA). The annual Rare Diseases and Organ Products summit brings together advocates, patients, researchers, and healthcare professionals from the rare disease community to…