Outcomes for children with congenital erythropoietic porphyria (CEP) have improved over the last few decades, and babies with CEP today are more likely to receive treatment that can improve their survival. That’s according to findings from a study, “Severe Perinatal Presentations of Günther’s Disease: Series of…
A stem cell transplant effectively eased the signs and symptoms of congenital erythropoietic porphyria (CEP) in a 3-month-old baby girl with severe disease, a case study reported. The results underscore the importance of early diagnosis and treatment to avoid harmful and permanent CEP effects. The case study, “Very…
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 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. …
Patients with congenital erythropoietic porphyria (CEP) should have a liver biopsy to assess the degree of liver damage before undergoing a bone marrow transplant, a study suggests. The study, “Bone Marrow Transplantation in Congenital Erythropoietic Porphyria: Sustained Efficacy but Unexpected Liver Dysfunction,” was published in the…
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