News

The seven-day Porphyria Awareness Week campaign kicks off May 12 to spread the word about porphyria and culminates with Global Porphyria Day on May 18, a Sunday. The theme of this year’s observance is “Think Porphyria,” according to the American Porphyria Foundation, which is joining forces with…

Liver disease, a potential complication of erythropoietic protoporphyria (EPP), may increase healthcare needs, raise disease burden, and negatively impact mental health, according to a new study by U.S. scientists based on self-reported data from patients. People with liver disease also said that their EPP had a greater impact on…

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…

People with acute intermittent porphyria (AIP) often consume large amounts of simple sugars and fats, which may contribute to metabolic problems, such as being overweight or having high levels of bad cholesterol in their blood, a study reports. “Our study provided valuable insights into the metabolic aspects of AIP,…

A woman in her 20s was diagnosed with acute hepatic porphyria (AHP) after experiencing seizures and visual hallucinations due to a condition known as PRES, or unilateral posterior reversible encephalopathy syndrome — which causes swelling in one side of the brain — and muscle weakness due to neuropathy, or…

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…

Short- and long-term treatment with Scenesse (afamelanotide) improves life quality in adults with erythropoietic protoporphyria (EPP), according to the largest real-world study of its kind. The therapy’s safety profile among those over 70 was consistent with that of the overall patient population, with nausea, cold-like symptoms, headache, and fatigue…

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 boy’s long medical odyssey, which eventually led to a diagnosis of congenital erythropoietic porphyria (CEP) but left the child with long-term disabilities, demonstrates the need for timely recognition of this rare form of porphyria, per a report from India. “This case report illustrates the complex and challenging journey…

Liver abnormalities are common among people with erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP), a large U.S. study suggests. While the abnormalities were mild in most cases, in a small fraction of patients they may be tied to a risk of worse outcomes. In fact, at least half the reported…