[A report of two Chinese familial Budd-Chiari syndrome].
OBJECTIVE
To investigate the etiology of two Chinese familial Budd-Chiari syndrome (BCS).


METHODS
Four patients with familial BCS (from A and B families), and the other 41 family members were detected by angiography, ultrasound Dopler, etiology analysis and Factor V Leiden (FvL) mutation analysis.


RESULTS
Four BCS patients were proved by angiography, 2 by ultra sound Dopler in family A. Ten members in family A were varicosis in low extremeties. FvL mutation was detected in 4 of 6 patients and 2 normal family members. A II(2), A III(7, 11, 15,) B II(10) and B III(5) had FvL mutation. The FvL mutations were compatible with Mendel hereditary law.


CONCLUSIONS
FvL mutation may be one of main risk factors and varicosis in low extremeties may be another risk factors for familial BCS.
Feng
B
B
Department of Radiology, the First Affiliated Hospital of China Medical University, Shenyang 110001, China.
Xu
K
K
Jiang
H
H
Fu
W
W
Li
H
H
Guo
M
M
Liu
X
X
Wang
Z
Z
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D006502:Budd-Chiari Syndrome / Q000235:genetics* / Q000473:pathology; D002648:Child; D002681:China; D004247:DNA / Q000235:genetics; D005165:Factor V / Q000235:genetics*; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction
C095381:factor V Leiden; D005165:Factor V; D004247:DNA