Factor V G1691A (Leiden) is a major etiological factor in Egyptian Budd-Chiari syndrome patients.
OBJECTIVE
Budd-Chiari syndrome is a multifactorial disease in which several prothrombotic disorders may predispose patients to the development of thrombosis at this uncommon location (hepatic veins). The aim of this study was to determine the prevalence and characteristics of inherited thrombophilia in Egyptian Budd-Chiari syndrome patients.


METHODS
The study included 47 Budd-Chiari syndrome patients (20 children and 27 adults). Genotyping of Factor V G1691A (Leiden), prothrombin G20210A (PT), and methylenetetrahydrofolate reductase C677T were performed using real-time PCR and fluorescence melting curve detection analysis.


RESULTS
Factor V Leiden was observed in 29 patients (61.7%). It is the only factor that caused Budd-Chiari syndrome in 18 of the patients and in 5 of the patients with inferior vena cava involvement. Myeloproliferative disease was noted in 12 (25.5%) patients, antiphospholipid syndrome in 5 (10.6%), and Behcet's disease in 3 (6.4%). Interestingly, 3 of the children with Budd-Chiari syndrome had lipid storage disease.


CONCLUSIONS
Factor V Leiden was a major etiological factor in Egyptian Budd-Chiari syndrome patients, which may have been related to the high frequency of this mutation in the study region. Factor V Leiden was also a strong thrombophilic factor and the leading cause of inferior vena cava thrombosis in these patients. Lipid storage disease should be included as a risk factor for Budd-Chiari syndrome.
Tawhida Y
TY
Abdel Ghaffar
Medical Genetics Center, 27A Baghdad Street, Korba, 11341 Cairo, Egypt, Phone: +202 241 51 999 E-mail: elsayed683@yahoo.com.
Solaf M
SM
Elsayed
Mohamed A
MA
Sakr
Ezzat S
ES
Elsobky
Sara M
SM
Abdelhakam
Said
S
Yousuf
Yonca
Y
Eğin
Nejat
N
Akar