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Familial polycythemia vera with Budd–Chiari syndrome in childhood
Author(s) -
Cario Holger,
Pahl Heike L.,
Schwarz Klaus,
Galm Christoph,
Hoffmann Martin,
Burdelski Martin,
Kohne Elisabeth,
Debatin KlausMichael
Publication year - 2003
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1046/j.1365-2141.2003.04591.x
Subject(s) - budd–chiari syndrome , polycythemia vera , medicine , pediatrics , gastroenterology , inferior vena cava
Summary. 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.