Is thrombophilia a major risk factor for deep vein thrombosis of the lower extremities among Lebanese patients?
OBJECTIVE
Factor V Leiden (R506Q) mutation is the most commonly observed inherited genetic abnormality related to vein thrombosis. Lebanon has one of the highest frequencies of this mutation in the world with a prevalence of 14.4% in the general population. The aim of this study is to define risk factors including inherited genetic abnormalities among Lebanese patients with lower extremity deep vein thrombosis. We report the clinical outcome of patients with thrombophilia.


METHODS
From January 1998 to January 2008, 162 patients (61 males and 101 females) were diagnosed with lower extremity deep vein thrombosis. Mean age was 61 years (range: 21 to 95 years).


RESULTS
The most frequent risk factors for vein thrombosis were surgery, advanced age, obesity, and cancer. Twenty-five patients had thrombophilia, 16 patients had factor V Leiden (R506Q) mutation, and seven patients had MTHFR C677T mutation. Ninety-two percent of patients screened for thrombophilia were positive. Screening was requested in young patients (16), patients with recurrent (11), spontaneous (8), and extensive (5) venous thrombosis, familial history (5), pregnancy (4), estroprogestative treatment (3), and air travel (1). Nine patients had one, 11 patients had two, and five had three of these conditions. Follow-up (6 to 120 months) of these 25 patients treated with antivitamin K did not reveal recurrences or complications related to venous thromboembolism.


CONCLUSIONS
Factor V Leiden mutation followed by MTHFR mutation are the most commonly observed genetic abnormalities in these series. Defining risk factors and screening for thrombophilia when indicated reduce recurrence rate and complications. Recommendations for thrombophilia screening will be proposed.
Kreidy
R
R
Department of Vascular Surgery, Saint George Hospital, University Medical Center, Youssef Sursock Street, PO Box 166378, Achrafieh, Beirut 11002807, Lebanon. docrkdy@inco.com.lb
Irani-Hakime
N
N
D000328:Adult; D000367:Age Factors; D000368:Aged; D000369:Aged, 80 and over; D000925:Anticoagulants / Q000627:therapeutic use; D044466:Asian People / Q000235:genetics; D005165:Factor V / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D015994:Incidence; D007861:Lebanon; D035002:Lower Extremity / Q000098:blood supply*; D008297:Male; D008403:Mass Screening / Q000379:methods; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics; D008875:Middle Aged; D009154:Mutation; D009369:Neoplasms / Q000150:complications; D009765:Obesity / Q000150:complications; D012008:Recurrence; D018570:Risk Assessment; D012307:Risk Factors; D013514:Surgical Procedures, Operative / Q000009:adverse effects; D019851:Thrombophilia / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy / Q000208:ethnology / Q000235:genetics; D016896:Treatment Outcome; D020246:Venous Thrombosis / Q000188:drug therapy / Q000208:ethnology / Q000209:etiology* / Q000235:genetics; D014812:Vitamin K / Q000037:antagonists & inhibitors; D055815:Young Adult
D000925:Anticoagulants; C095381:factor V Leiden; D014812:Vitamin K; D005165:Factor V; D042965:Methylenetetrahydrofolate Reductase (NADPH2)
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