title: Inherited prothrombotic defects in Budd-Chiari syndrome and portal vein thrombosis: a study from North India.
abstract: We studied 57 patients with Budd-Chiari syndrome (BCS) and 48 with portal vein thrombosis (PVT) for underlying inherited prothrombotic defects such as protein C, protein S, and antithrombin III deficiencies. Genetic mutations for factor V Leiden, prothrombin gene 20210A, and methyltetrahydrofolate reductase (MTHFR) C677T were studied in 29 patients in each group. Inherited prothrombotic defects were detected in 16 (28%) of 57 patients with BCS and 7 (15%) of 48 patients with PVT. Factor V Leiden mutation was the most common prothrombotic defect in BCS (5/29 [17%]) followed by protein C deficiency (7/57 [12%]) and protein S deficiency (4/57 [7%]), whereas in PVT, protein C deficiency was the most common inherited prothrombotic defect (4/48 [8%]) followed by protein S deficiency (2/48 [4%]). The factor V Leiden mutation was detected in only 1 (3%) of 29 cases of PVT. The heterozygous MTHFR C677T mutation was detected in 7 (24%) of 29 patients with BCS and 6 (21%) of 29 patients with PVT. Antithrombin III deficiency, homozygous MTHFR C677T mutation, and prothrombin G20210A mutation were not detected in any patients.
authors.affiliation: Department of Hematology, All India Institute of Medical Sciences, New Delhi.
authors.forename: Maitreyee
authors.initials: M
authors.lastname: Bhattacharyya
authors.forename: Govind
authors.initials: G
authors.lastname: Makharia
authors.forename: M
authors.initials: M
authors.lastname: Kannan
authors.forename: R P H
authors.initials: RP
authors.lastname: Ahmed
authors.forename: P K
authors.initials: PK
authors.lastname: Gupta
authors.forename: Renu
authors.initials: R
authors.lastname: Saxena
mesh_terms: D000293:Adolescent; D000328:Adult; D000990:Antithrombin III / Q000378:metabolism; D006502:Budd-Chiari Syndrome / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D005165:Factor V / Q000235:genetics; D005260:Female; D006801:Humans; D007194:India; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics; D008875:Middle Aged; D009154:Mutation; D011169:Portal Vein / Q000473:pathology*; D011486:Protein C / Q000378:metabolism; D017293:Protein S / Q000378:metabolism; D011516:Prothrombin / Q000235:genetics; D020246:Venous Thrombosis / Q000235:genetics* / Q000473:pathology*
chemical_list: D011486:Protein C; D017293:Protein S; C095381:factor V Leiden; D000990:Antithrombin III; D005165:Factor V; D011516:Prothrombin; D042965:Methylenetetrahydrofolate Reductase (NADPH2)