Margarida Maia, PhD,  science writer—

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]…

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 —…

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…

An iron infusion for persistently low levels of hemoglobin, or the iron-containing protein that carries oxygen in red blood cells, triggered a sudden attack of erythropoietic protoporphyria (EPP) in a 28-year-old British man. Managing the disease required avoiding triggers as well as receiving ongoing care to prevent future flares…

Scenesse (afamelanotide) increases the time people with erythropoietic protoporphyria (EPP) or X-linked protoporphyria (XLP), two types of porphyria, can spend in the sun without pain, which may help improve their quality of life, a study has found. The study, “Afamelanotide for Treatment of the Protoporphyrias: Impact on…

A new artificial intelligence (AI) algorithm may help reduce the time it takes to diagnose acute hepatic porphyria (AHP) and other rare diseases. That’s according to a study reporting that models using the AI algorithm “could identify 71% of [AHP] cases earlier than their…

Oral iron supplements may help people with erythropoietic protoporphyria (EPP) build back their iron reserves and increase the levels of hemoglobin — the iron-containing protein that carries oxygen in red blood cells — a small study in Denmark suggests. However, even when taken at small doses over a short…

Certain triggers of acute intermittent porphyria (AIP) may also affect the function of the brain’s mitochondria — the bean-shaped structures that produce energy inside cells — according to a mouse study conducted by researchers in Argentina. While it is unknown whether this holds true in humans, understanding “the mechanisms…

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,…

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…