[Relationship between factor v Leiden mutation and Chinese Budd-Chiari syndrome and its clinical significance].
OBJECTIVE
To investigate the relationship between factor v Leiden (FvL) mutation and Chinese sporadic Budd-Chiari syndrome (BCS), familial BCS, and to explore the significance of FvL mutation in the etiology of BCS.


METHODS
Twenty-five patients with sporadic BCS, 6 patients with familial BCS (from A and B families), 39 both A and B family members, and 31 healthy persons were detected for FvL mutation with PCR. Meantime, two family members were explored for the related etiology of BCS.


RESULTS
Factor V Leiden mutation was detected in 4 of 6 patients with familial BCS and in 2 family members. AIII(7,11,15) and BII(10), AII(2) and BIII(5) were found FvL mutation, and mutation was heterzygous. FvL mutation in the two degrees was compatible with Mendel hereditery law. The frequency of FvL mutation in 31 BCS and 31 healthy persons showed no statistical significance: but the frequency of FvL mutation between the familial BCS and healthy persons showed statistical significance. Ten persons in A family had varicose vein of the low extremeties, which was compatible with autosomal dominant inheritance.


CONCLUSIONS
FvL mutation is related to Chinese familial BCS, but is not related to Chinese sporadic BCS. FvL mutation may be a underlying pathogenicity of familial BCS. Varicose vein of the low extremeties may be one of the pathogenicity of familial BCS.
Feng
B
B
Department of Radiology, The First Affiliated Hospital, China Medical University, Shenyang 110001, China.
Xu
K
K
Jiang
H
H
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People / Q000235:genetics*; D006502:Budd-Chiari Syndrome / Q000235:genetics*; D002648:Child; D002681:China / Q000208:ethnology; D005006:Ethnicity / Q000235:genetics*; D005165:Factor V / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree
C095381:factor V Leiden; D005165:Factor V