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…
A woman with the rarest type of porphyria, called congenital erythropoietic porphyria or CEP, was successfully treated by regular blood removal — a procedure called phlebotomy — which lowered her blood iron levels, reduced urinary porphyrins, and eliminated sun-sensitive skin blisters, a case study showed. …
People with variegate porphyria (VP), one of a group of related disorders, carry a significantly heavier disease burden — the overall impact of a medical disorder on a patient’s life — than those with hereditary coproporphyria (HCP), primarily…
Radiation therapy for a woman with vaginal cancer completely resolved co-existing porphyria cutanea tarda (PCT), a form of porphyria that affects the skin, a case study reported. The case study, “Porphyria cutanea tarda exacerbation as…
Establishing normal urinary levels of delta-aminolevulinic acid (ALA) and porphobilinogen (PBG) in healthy individuals helps identify people with acute hepatic porphyria (AHP) with high accuracy, a study shows. These reference values may serve to…
Panhematin (hemin for injection), an approved medication to treat acute intermittent porphyria (AIP), has been deemed an essential medicine by the U.S. Food and Drug Administration (FDA), a designation intended…
The U.S. incidence of the most common form of liver cancer — called hepatocellular carcinoma (HCC) — in people with acute hepatic porphyrias (AHP) warrants cancer screening beginning at age 50, a study suggests. The study,…
People with acute intermittent porphyria (AIP) who were treated with Alnylam Pharmaceuticals’ RNA-based therapy Givlaari (givosiran) had a 74% reduction in porphyria attacks and sustained decreases in toxic products over six…
Two previously unreported mutations were found in a man and his mother with variegate porphyria affecting the skin only, a new case study reports. This finding may help healthcare professionals better understand the connection between specific genetic mutations and disease development…
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