Heme, a molecule crucial for several biological processes, is transported from sites of production or storage for use in cells with the help of a protein called TANGO2, a team of researchers have discovered. Because TANGO2 ensures heme is available for use — and that it does not accumulate…
News
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 stem cell transplant effectively eased the signs and symptoms of congenital erythropoietic porphyria (CEP) in a 3-month-old baby girl with severe disease, a case study reported. The results underscore the importance of early diagnosis and treatment to avoid harmful and permanent CEP effects. The case study, “Very…
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…
A young woman in France experienced a stroke as a reversible neurological consequence of an acute intermittent porphyria (AIP) attack that blocked blood flow to the brain, according to a recent case report. “The findings in our patient document reversible arterial narrowing” that caused the blood flow to be…
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…
Givlaari (givosiran) can effectively control symptoms of acute hepatic porphyria (AHP), reducing disease burden, even in patients with low attack rates. That’s according to a post hoc analysis of the Phase 3 ENVISION trial (NCT03338816). As noted by researchers, these results support the long-term benefits of Givlaari…
People with acute intermittent porphyria (AIP) who have health problems related to the kidneys or liver are more likely to have issues with oral health than those without the genetic disorder, according to a new study. Specifically, patients with kidney failure or liver scarring were found to have worse…
Two new algorithms that can accurately diagnose acute and cutaneous porphyria have been developed and validated, a study from Belgium reports. According to study’s authors, these algorithms can be used to help clinicians correctly interpret porphyria-related lab tests. “To our knowledge, this is the first time that diagnostic algorithms…
Women with acute hepatic porphyria (AHP) who experience sporadic attacks reported facing chronic symptoms and significant disruptions to their daily activities around each attack, according to a recent study. During patient interviews, these women also frequently described symptom “flares” that they did not consider to be an acute porphyria…
Recent Posts
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