Patricia Inácio, PhD, science writer —

Abdominal pain accompanied by nausea and vomiting, and a red-brownish urine could be indicative of acute hepatic porphyria (AHP), a case report suggests. The symptoms’ presence means physicians should “consider the rare diagnosis of porphyria so that appropriate and timely treatment can be rendered and genetic screening of family…

A recent case report highlights how acute intermittent porphyria (AIP) should be considered early in the process of diagnosis when patients show certain brain symptoms and heart problems. The brain conditions documented are posterior reversible encephalopathy syndrome (PRES), which is marked by swelling in parts of the brain, and…

Givlaari (givosiran) safely led to a complete resolution of annual attacks in people with acute hepatic porphyria (AHP), according to real-world data from a case series study in Italy. Long-term treatment also led to sustained reductions in key markers of AHP, along with gains in physical function. A trend for…

Heavy alcohol consumption and hereditary hemochromatosis, a genetic disorder characterized by iron overload, are the leading risk factors for porphyria cutanea tarda (PCT), the most common form of porphyria, according to a retrospective 35-year follow-up study conducted in Scotland. Disease remission was more commonly achieved by patients who had…

Treatment with Givlaari (givosiran) successfully resolved acute attacks of acute intermittent porphyria (AIP) in a 36-year-old woman who had been experiencing recurrent bouts of abdominal pain over the prior three years. According to researchers, this is the first report supporting the use of Givlaari “as an effective therapeutic…

Cosentyx (secukinumab) — a treatment approved for a skin condition called psoriasis — successfully treated both that disorder and porphyria cutanea tarda (PCT), the most common form of porphyria, in a 65-year-old woman, a case study shows. Subsequently stopping Cosentyx, which works by blocking the pro-inflammatory molecule IL-17, led…

A man in his 40s with a history of acute intermittent porphyria (AIP) had an attack triggered by a COVID-19 infection after two years without any episodes, according to researchers. The AIP attack was complicated by rhabdomyolysis, a serious condition in which muscles break down. While the patient recovered…

For the first time in Thailand, home to an estimated 350 undiagnosed acute intermittent porphyria (AIP) patients, molecular testing was used to confirm an AIP attack in a 14-year-old girl, researchers report. The teen had experienced bouts of abdominal pain and neuropsychiatric symptoms that are a hallmark of…

A report described a case of variegate porphyria, a type of acute porphyria, in a 9-year-old girl who had several underlying medical conditions, including a severe form of epilepsy. The researchers noted that while variegate porphyria is not frequently seen in children, when it is it’s “associated with more…

People with acute hepatic porphyria (AHP) having recurrent attacks are burdened with chronic symptoms between those attacks, according to data from the natural history EXPLORE study. High disease burden was also observed in patients having fewer porphyria attacks — less than three in the absence of preventive treatment for…