Marisa Wexler, MS, senior science writer —

For a teenage boy in Japan, it wasn’t until getting a second liver biopsy — nearly three years after his initial one — that he was accurately diagnosed with erythropoietic protoporphyria (EPP). This case highlights that “EPP should be considered in young patients with unexplained liver dysfunction, skin symptoms,…

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,”…