A 21-year-old woman was diagnosed with congenital erythropoietic porphyria (CEP) — the rarest of porphyria types — after developing acute liver failure and swelling in the legs and mouth associated with the intake of ferrous sulfate, an iron supplement. The woman had a previous history of chronic iron deficiency…
The case of a 16-year-old girl with recurrent acute intermittent porphyria (AIP) attacks who saw her symptoms ease after she started treatment with Givlaari (givosiran) has been reported in the U.S. The injectable therapy in the U.S. is approved only for adults with acute forms of porphyria, unlike…
The dosing of Givlaari (givosiran) may be personalized for people with acute intermittent porphyria (AIP), who are in stable condition after one year of treatment. That’s according to a recent study that described the cases of three women for whom treatment normalized the levels of delta-aminolevulinic acid (ALA),…
Children with erythropoietic protoporphyria (EPP) — who have severe skin hypersensitivity to sunlight — experience “markedly reduced” physical and social quality of life compared with healthy youngsters, and even relative to adults with the condition, according to a study done in the Netherlands and Belgium. “Ensuring treatment availability for…
Blood levels of neurofilament light (NfL), a marker of nerve cell damage, are 68 times higher during an acute attack in people with acute hepatic porphyria (AHP) than the levels seen in healthy adults, a recent study reported. NfL levels were elevated in patients with sporadic or recurrent porphyria…
A rare mutation in the HFE gene, called H63D, was found to be the cause of hereditary hemochromatosis, a condition marked by iron overload, that ultimately led to porphyria cutanea tarda (PCT) in a 21-year-old man in the U.S., a case report shows. This case demonstrates the occurrence of…
A 21-year-old woman with congenital erythropoietic porphyria (CEP) — the rarest type of porphyria — required a liver transplant after she developed porto-sinusoidal vascular disease (PSVD), a condition characterized by high blood pressure, or hypertension, in the portal vein that runs through the liver. According to the authors, this…
Vitamin D supplementation significantly increases the levels of vitamin D and reduces its deficiency, which is prevalent in adults with erythropoietic protoporphyria (EPP), regardless of whether they’re being treated with Scenesse (afamelanotide), a recent study reports. However, treatment with Scenesse did not significantly affect the levels of vitamin D…
A new mutation in the HMBS gene was identified as the cause of acute intermittent porphyria (AIP) in a 22-year-old woman in China, according to a recent study. The mutation was found to affect splicing — the process that allows the coding regions of a gene to be joined…
People with acute intermittent porphyria (AIP) have high levels of three markers of kidney and liver injury in their blood, suggesting these could potentially serve as early biomarkers to mitigate damage, a recent study reports. Levels of these markers — KIM-1, FABP-1, and alpha-GST — were found to be…
Get regular updates to your inbox.