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[A report of two Chinese familial Budd-Chiari syndrome]
1Department of Radiology, the First Affiliated Hospital of China Medical University, Shenyang 110001, China.
Objective:
To investigate the etiology of two Chinese familial Budd-Chiari syndrome (BCS).
Method:
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.
Result:
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.
Conclusion:
FvL mutation may be one of main risk factors and varicosis in low extremeties may be another risk factors for familial BCS.