Resistance to activated protein C (APC) degradation caused by a specific point mutation in the factor V (FV) gene, FV:R506Q or FV-Leiden, which replaces Arg506 with Gln at the APC cleavage site within the FV gene, is the most prevalent inherited caused of venous thrombosis. Recent reports suggested that the prevalence of FV-Leiden is high among Caucasians, and very low among non-Caucasians, thereby suggesting that FV-Leiden has originated as a single event in a primary focus. Insofar as FV-Leiden is associated with increased risk of thromboembolic diseases, coupled with its selective worldwide distribution, the aim of this study was to determine the prevalence of FV-Leiden in Leba-non and compare it with those of other countries of Caucasian and non-Caucasian origin. FV-Leiden was determined by PCR, followed by hybridization with specific wild-type and mutant DNA probes. By screening 174 healthy Lebanese subjects, 25 were shown to carry the FV-Leiden mutation, giving an allele frequency of 7.4% and an overall prevalence rate of 14.4%. Of the 25 FV-Leiden carriers, 24 were in the heterozygous state while one was in the homozygous states. No statistical difference in the FV-Leiden prevalence was noted with respect to age, gender, or sect. In addition to Lebanon, which had the highest prevalence rate reported thus far (14.4%), a high prevalence of FV-Leiden was reported for Syria (13.6%), Greece-Cyprus (13.4%), and Jordan (12.3%), an indication that the Eastern Mediterranean is the primary focus of FV-Leiden mutation. The high prevalence of FV-Leiden in Lebanon suggests that screening for this mutation must be considered for those with a family history, and/or those with additional risk factors for ve-nous thrombosis. Am. J. Hematol. 65:45-49, 2000.
This indicates that FV-Leiden and PRT G20210A, more than MTHFR C677T, are important risk factors for DVT, and that the presence of more than one prothrombotic SNPs was associated with a significant risk of DVT.
Malignant struma ovarii is an extremely rare tumor. Two new cases are described and current perspectives provided. Both cases are examples of the mixed form of the disease, and both were treated by surgery alone. One patient underwent total hysterectomy and bilateral salpingo‐oophorectomy; the other had unilateral salpingo‐oophorectomy. Both patients remained free of recurrent disease at 20 and 33 months from diagnosis. The controversies relating to therapy and diagnosis are discussed in detail.
AimLower extremity deep venous thrombosis in the young adult is uncommon and has not been well studied in the literature. The aim of this study is to define risk factors for deep venous thrombosis among patients younger than 50 years of age, to compare them with a control group, and to suggest recommendations for the management and treatment of venous thrombosis in this particular group of patients.MethodsFrom January 2003 to January 2011, 66 consecutive Lebanese patients (29 males and 37 females) younger than 50 years, diagnosed in an academic tertiary-care center with lower extremity deep venous thrombosis by color flow duplex scan, were retrospectively reviewed. Their age varied between 21 and 50 years (mean 38.7 years). The control group included 217 patients (86 males and 131 females) older than 50 years (range: 50–96 years; mean 72.9 years).ResultsThe most commonly reported risk factors in the younger age group were inherited thrombophilia (46.9% compared with 13.8% in the control group; P < 0.001), pregnancy (18.2% compared with 0.5%; P < 0.001), treatment with estrogen drugs (13.6% compared with 2.3%; P = 0.001), and family history of venous thromboembolism (9.1% compared with 3.8%; P = 0.084).ConclusionInherited thrombophilia is the most commonly observed risk factor among patients younger than 50 years, with a prevalence of three times more than the control group. Young adults should be screened for thrombophilia even in the presence of transient acquired risk factors. Pregnancy and treatment with estrogen drugs essentially when associated with inherited thrombophilia represent a frequent cause of venous thrombosis among young female patients. Inferior vena cava abnormalities should be excluded in young patients with spontaneous proximal venous thrombosis especially when recurrent venous thrombosis or resistance to anticoagulation are observed.
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