title: Curative bone marrow transplantation in erythropoietic protoporphyria after reversal of severe cholestasis.
abstract: We report the case of a middle-age patient presenting with severe progressive protoporphyric cholestasis. To halt further progression of liver disease, medical treatment was given aimed at different mechanisms possibly causing cholestasis in erythropoietic protoporphyria. Within eighty days, liver biochemistry completely normalized and liver histology markedly improved. Bone marrow transplantation was performed to prevent relapse of cholestatic liver disease by correcting the main site of protoporphyrin overproduction. Thirty-three months after cholestatic presentation and ten months after bone marrow transplantation, liver and porphyrin biochemistry remains normal. The patient is in excellent condition and photosensitivity is absent. The theoretical role of each treatment used to successfully reverse cholestasis and the role of bone marrow transplantation in erythropoietic protoporphyria are discussed. Medical treatment can resolve hepatic abnormalities in protoporphyric cholestasis. Bone marrow transplantation achieves phenotypic reversal and may offer protection from future protoporphyric liver disease.
authors.affiliation: Department of Gastroenterology and Hepatology, Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden. staffan.wahlin@ki.se
authors.forename: Staffan
authors.initials: S
authors.lastname: Wahlin
authors.forename: Johan
authors.initials: J
authors.lastname: Aschan
authors.forename: Mikael
authors.initials: M
authors.lastname: Björnstedt
authors.forename: Ulrika
authors.initials: U
authors.lastname: Broomé
authors.forename: Pauline
authors.initials: P
authors.lastname: Harper
mesh_terms: D016026:Bone Marrow Transplantation; D002779:Cholestasis / Q000209:etiology* / Q000503:physiopathology / Q000601:surgery*; D006801:Humans; D008099:Liver / Q000473:pathology / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D011166:Porphyrins / Q000378:metabolism; D046351:Protoporphyria, Erythropoietic / Q000150:complications* / Q000473:pathology / Q000503:physiopathology / Q000601:surgery*; D013997:Time Factors
chemical_list: D011166:Porphyrins