The United Porphyrias Association (UPA) has received a five-year grant from the Chan Zuckerberg Initiative Rare As One Project to support efforts including advancing progress on the diagnosis, research, and treatment of porphyria. The association said the grant will “significantly enhance UPA’s ability to build a comprehensive…
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 so-called hCG diet for weight loss, which combines a low-calorie diet with injections of the pregnancy hormone human chorionic gonadotropin (hCG), aggravated acute intermittent porphyria (AIP) in a 34-year-old woman, according to a recent case study. This diet involves receiving hCG, a naturally produced pregnancy hormone that’s approved…
An iron infusion for persistently low levels of hemoglobin, or the iron-containing protein that carries oxygen in red blood cells, triggered a sudden attack of erythropoietic protoporphyria (EPP) in a 28-year-old British man. Managing the disease required avoiding triggers as well as receiving ongoing care to prevent future flares…
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…
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),…
By combing through a database from the U.S. Food and Drug Administration (FDA), scientists in China have compiled a list of more than 50 medications that can trigger porphyria attacks. Their findings were reported in the study, “Drug-associated porphyria: a pharmacovigilance study,” published in the Orphanet Journal…
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…
Scenesse (afamelanotide) increases the time people with erythropoietic protoporphyria (EPP) or X-linked protoporphyria (XLP), two types of porphyria, can spend in the sun without pain, which may help improve their quality of life, a study has found. The study, “Afamelanotide for Treatment of the Protoporphyrias: Impact on…
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