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…
Impairments in endothelial cells — those that line blood vessels — are more likely to be found in people with severe acute hepatic porphyria who have active symptoms than among those without signs of the disease, a study revealed. Abnormal levels of biomarkers that reflect endothelial cell impairment also…
Almost all people with severe, recurrent acute intermittent porphyria (AIP) were free from symptomatic attacks after treatment with Givlaari (givosiran), a small real-world study showed. Givlaari “drastically reduced the attack rate in our cohort, as 96% were attack-free at the time of the study,” the researchers wrote. Early…
Adults with erythropoietic protoporphyria (EPP) treated with Scenesse (afamelanotide) spent more time exposed to light in springtime, experienced less pain, and slept better, according to a small case-controlled study. These patients, who experience skin hypersensitivity to sunlight, tolerated increased broad-spectrum white light exposure in the spring months, the…
Unusual cases of congenital erythropoietic porphyria (CEP) occurring before birth may lead to miscarriage, as highlighted in a recent study describing the cases of two siblings. The amniotic fluid — the liquid that surrounds the developing fetus in the womb — in both pregnancies was not dark as expected…
Acute intermittent porphyria (AIP) attacks can be stopped by regular peritoneal dialysis, a treatment that eliminates waste products by rinsing the inner abdomen, as reported in a case study. According to researchers, this study suggests that peritoneal dialysis may be used both as a preventive treatment and during AIP…
The growing incidence of certain types of cancer among the elderly may indicate that an association between acquired erythropoietic uroporphyria (AEU) — a late-onset form of congenital erythropoietic porphyria (CEP) — and bone marrow malignancies may be more common than previously thought. The case of an 80-year-old man who…
A rare and severe form of porphyria — congenital erythropoietic porphyria (CEP) — was diagnosed in an infant girl immediately after birth. The case report, “Perinatal onset of severe congenital erythropoietic porphyria,” was published in the journal Archives of Disease in Childhood: Fetal & Neonatal.
A blood stem cell transplant can successfully correct defects in the body’s ability to make heme — a molecule that helps transport oxygen through the bloodstream — in people with bone marrow-based porphyrias, a small study showed. Thus, in patients with severe porphyrias, stem cell transplants should be considered…
Nearly 25% of people, mostly women, with acute intermittent porphyria (AIP) also have chronic nerve damage — a condition known as neuropathy — and use high amounts of pain medications, according to an analysis of a U.S. healthcare claims database. Based on these findings, when diagnosing and treating AIP…
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