title: Familial polycythemia vera with Budd-Chiari syndrome in childhood.
abstract: Polycythemia vera is a myeloproliferative disorder that, in most cases, occurs sporadically with a median age at presentation of 60 years. Familial cases are very rare and usually manifest in elderly family members. The Budd-Chiari syndrome, characterized by the obstruction and occlusion of the suprahepatic veins, is a rare typical complication in polycythemia vera patients. To date, only two children or adolescents with polycythemia vera and Budd-Chiari syndrome have been described. Here, we report an 11-year-old girl with Budd-Chiari syndrome as the initial symptom of familial polycythemia vera, which was also found in the girl's grandmother. Details of the diagnostic procedures used and the clinical course are reported. The patient underwent orthotopic liver transplantation and is being treated with hydroxyurea. The available literature on familial polycythemia vera and polycythemia vera in childhood with and without Budd-Chiari syndrome is reviewed.
authors.affiliation: Department of Paediatrics, University Hospital Ulm, Germany. holger.cario@medizin.uni-ulm.de
authors.forename: Holger
authors.initials: H
authors.lastname: Cario
authors.forename: Heike L
authors.initials: HL
authors.lastname: Pahl
authors.forename: Klaus
authors.initials: K
authors.lastname: Schwarz
authors.forename: Christoph
authors.initials: C
authors.lastname: Galm
authors.forename: Martin
authors.initials: M
authors.lastname: Hoffmann
authors.forename: Martin
authors.initials: M
authors.lastname: Burdelski
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Kohne
authors.forename: Klaus-Michael
authors.initials: KM
authors.lastname: Debatin
mesh_terms: D001853:Bone Marrow / Q000473:pathology; D006502:Budd-Chiari Syndrome / Q000209:etiology*; D002648:Child; D005260:Female; D006801:Humans; D008099:Liver / Q000000981:diagnostic imaging; D008279:Magnetic Resonance Imaging; D011087:Polycythemia Vera / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D014463:Ultrasonography