Marisa Wexler, MS, senior science writer —

In an extremely unusual case, a young man in Turkey diagnosed as a child with spinal muscular atrophy, a rare genetic neurological disease, was also found to have porphyria. “An individual carrying mutated genes for both diseases is similar to the odds of two pins colliding in mid-air,” its…

Treatment with Givlaari (givosiran) normalized disease-related laboratory parameters in a 47-year-old woman with acute intermittent porphyria (AIP) but she continued to experience severe symptom attacks despite getting normal test results. “We report a patient with AIP who experienced biochemical resolution of her [disease] with monthly [Givlaari] injections yet…

Among people with porphyria cutanea tarda (PCT) and chronic hepatitis C infection, treatment with modern antiviral medicines has been found to cure the infection and resolve PCT symptoms, according to a new study. Specifically, a combination therapy of ledipasvir and sofosbuvir — sold by Gilead under the brand name…

People with inactive porphyria who choose to fast for a day as part of their religious observances generally don’t see any unusual porphyria symptoms, a recent study reported. The study, “A 25-Hour Fast Among Quiescent Hereditary Coproporphyria and Variegate Porphyria Patients is Associated With a Low Risk…

Treatment with Scenesse (afamelanotide) — an implantable medicine used to treat people with intolerance to light — can help improve life quality for those with erythropoietic protoporphyria (EPP), making it easier for them to do certain activities, such as going to work or on vacation, a recent study…

A woman with acute intermittent porphyria (AIP) developed acute liver injury due to treatment with Givlaari (givosiran), according to a recent report. Her case, while “more rare” as a therapy side effect, highlights the importance of monitoring patients starting on Givlaari for liver damage, the scientists noted. The…

The case of a teenager in Nepal who was diagnosed with porphyria following a detailed series of clinical tests — part of a “diagnostic conundrum” — was described in a recent report. “This case highlights the baffling amalgamation of symptoms that simulate common diseases of concern yet are buried…

The case of a woman with porphyria, who had a dangerous blood clot develop in a large vein heading into the heart, highlights the importance of identifying and promptly treating such issues in porphyria patients, researchers noted. The report, “Inferior Vena Cava Thrombosis in a Porphyria…

A new mutation in the HMBS gene was found to be the cause of acute intermittent porphyria (AIP) in a Chinese woman who experienced symptom flares related to an unexpected pregnancy, a case study reported. “This case contributes to the existing knowledge on AIP and its causative genetic mutations,”…

A wearable device capable of measuring light exposure could help to predict symptoms of erythropoietic protoporphyria (EPP), and may be useful as a measure to include in clinical trials, according to a recent study. The study, “Prospective observational pilot study of quantitative light dosimetry in erythropoietic…