Clinical–liver, pancreas, and biliary tractPrevalence of the Activating JAK2 Tyrosine Kinase Mutation V617F in the Budd–Chiari Syndrome
Section snippets
Study Subjects
Sixty patients presenting to King’s College Hospital, London, between 1985 and 2005 were identified from comprehensive databases held within our institution. All patients had objectively confirmed hepatic vein thrombosis. Only patients with “idiopathic BCS” (n = 41) were evaluated; patients with secondary BCS (n = 19) were excluded from the study (Table 1). Fulminant hepatic failure was the presenting feature in 80.5%; the remainder had established chronic liver disease. Racial origin was as
Results
Clinical and laboratory data were retrospectively studied from 41 patients with BCS (female, n = 26; mean age at diagnosis, 35.5 years [standard deviation, 13.3]) presenting to our hospital between 1985 and 2005 (Table 2, Table 3).
Discussion
We have found a high prevalence of JAK2V617F in patients with BCS. Of note, none of the 27 JAK2V617F-positive subjects with BCS were previously known to have MPD. These cases failed to fulfill the accepted diagnostic criteria for MPD8, 9, 10, 11 and therefore represent a group with a “forme fruste” of MPD.
The myeloproliferative disorders are all associated with clonal hematopoiesis with the key abnormality originating within the hemopoietic stem cell. Whereas clonality in the majority of cases
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Dr Patel and Dr Lea contributed equally to this study.