Adults and adolescents with erythropoietic protoporphyria (EPP) reported a significant detrimental impact of the disease on their health-related quality of life (HRQoL), as well as their social and psychosocial well-being, a new study reports. Nearly two-thirds of adults and almost all adolescents reported limitations in their daily activities, while…
The difficulty of diagnosing acute intermittent porphyria (AIP) due to its overlap of symptoms of other conditions, such as chronic cannabis use or eating disorders, was shown in a recent case report about a 15-year-old girl. The girl arrived at the hospital with severe vomiting, stomach pain, and psychiatric…
A combined liver and kidney transplant successfully treated a woman with a 20-year history of severe symptoms of acute intermittent porphyria (AIP), including end-stage kidney disease, according to a case report from Germany. The report, “Successful Pregnancy After Combined Liver and Renal Transplantation in a Patient…
Liver abnormalities are common among people with erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP), a large U.S. study suggests. While the abnormalities were mild in most cases, in a small fraction of patients they may be tied to a risk of worse outcomes. In fact, at least half the reported…
A 26-year-old man who developed seizures, muscle weakness, and abdominal pain was eventually diagnosed with acute intermittent porphyria (AIP), a Chinese study reports. The patient was initially diagnosed with posterior reversible encephalopathy syndrome (PRES), a rare condition marked by swelling in the brain, but a biochemical and genetic analysis later…
People with porphyria cutanea tarda (PCT), the most common form of porphyria, may be at a higher risk of heart attacks, blood clot-related complications, and other cardiovascular conditions, underscoring the need for early screening and targeted treatment, a retrospective study from the U.S. suggests. According to researchers, “physicians can consider…
An online health education program significantly reduced acute attacks, boosted mental health, and improved quality of life for people with acute intermittent porphyria (AIP), a study reported. The researchers said the findings “hold important clinical significance for broader application.” The study, “Effects of internet-based health education on patients…
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…
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