Margarida Maia, PhD, science writer —

A new mutation in the HMBS gene was identified as the cause of acute intermittent porphyria (AIP) in a woman, and also detected in her daughter, who showed no symptoms of the disease, according to a study in China. The mutation was found to affect splicing — the process…

People with acute intermittent porphyria (AIP) who have high levels of porphyrin precursors in the urine are more likely to develop primary liver cancer, according to a new study that also found the risks are higher for these AIP patients after age 65. “Individualized PLC [primary liver cancer] risk…

Many of the symptoms of erythropoietic protoporphyria (EPP), a form of porphyria, may not be reported fully or at all, and this may make it harder to diagnose the rare disease, according to a new U.S. study. Researchers observed that nearly all patients in the…

Many people with acute hepatic porphyria (AHP) in Japan already have complications related to their disease at the time they’re diagnosed and about one in 10 take medications that could make their attacks worse, a study has found. Researchers observed that while a little more than half the patients received…

A boy in Iran was found to carry two copies of a previously unknown mutation in the PPOX gene that caused both skin and neurological symptoms of variegate porphyria (VP), according to a recent case report. “To the best of our knowledge, around 15 cases with homozygous VP [both…

Patients with acute porphyria have a higher risk of developing primary liver cancer, a Swedish study has found. Researchers observed that primary liver cancer was 38 times more likely to occur in patients with acute porphyria than in the general population. This risk was even higher for those with…

A young woman with acute intermittent porphyria (AIP) experienced neuropathic pain — a type of pain caused by nerve damage — after receiving a liver transplant, according to a report from investigators in Brazil. For the first five months following the procedure, the woman experienced no symptoms, but then…

Women with acute intermittent porphyria (AIP) receiving once-weekly preventive treatment with heme arginate — given as an intravenous or into-the-vein infusion — had fewer and less severe attacks, a small study found. Indeed, these AIP patients saw a reduction in acute attacks by more than 80% with the use…

A young pregnant woman was diagnosed with acute hepatic porphyria (AHP) after her urine was found to glow pink under ultraviolet (UV) light, as described in a recent case report. The woman’s symptoms were general, which often makes an early diagnosis difficult. A “simple method like urine examination under ultraviolet…

Poorly working mitochondria — small energy-producing cell compartments — may drive muscle weakness or wasting in a new mouse model of porphyria, a study suggests. “In some cases, muscle atrophy [is] present in porphyria; however, the underlying mechanism is still unknown,” its authors wrote. These findings may therefore provide…