Family history and inherited thrombophilia

Sluis, Geerte L. van; Söhne, Maaike; Kheir, D. Y. El; Tanck, Michael W.T.; Gerdes, Victor E. A.; Büller, Harry R.

doi:10.1111/j.1538-7836.2006.02139.x

Cited by 64 publications

(56 citation statements)

References 35 publications

(39 reference statements)

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“…Moreover, among Blacks, VTE has been associated with increased levels of fibrinogen, [29] factor VIII [47], and plasma fibrin D-dimer [48]. Although the lower prevalence of a family history of VTE among Blacks when compared with Whites might argue against a heritable component, this observation could also be explained by the frequent incomplete penetrance of inherited thrombophilia [14,[49][50][51].…”

Section: Discussionmentioning

confidence: 99%

Comparison of characteristics from White‐ and Black‐Americans with venous thromboembolism: A cross‐sectional study

et al. 2010

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When compared with Whites, Black-Americans may have a 40% higher incidence venous thromboembolism (VTE) incidence. However, whether other VTE characteristics and risk factors vary by race is uncertain. To compare demographic and baseline characteristics among White-and Black-Americans with VTE, we used data prospectively collected from consecutive consenting adults enrolled in seven Centers for Disease Control (CDC) Thrombosis and Hemostasis Centers from August 2003 to March 2009. These characteristics were compared among Whites (n 5 2002) and Blacks (n 5 395) with objectively diagnosed VTE, both overall, and by age and gender. When compared with Whites, Blacks had a significantly higher proportion with pulmonary embolism (PE), including idiopathic PE among Black women, and a significantly higher proportion of Blacks were women. Blacks had a significantly higher mean BMI and a significantly lower proportion with recent surgery, trauma or infection, family history of VTE, and documented thrombophilia (solely from reduced factor V Leiden and prothrombin G20210A prevalence). Conversely, Blacks had a significantly higher proportion with hypertension, diabetes mellitus, chronic renal disease and dialysis, HIV, and sickle cell disease. When compared with White women, Black women had a significantly lower proportion with recent oral contraceptive use or hormone therapy. We conclude that Whites and Blacks differ significantly regarding demographic and baseline characteristics that may be risk factors for VTE. The prevalence of transient VTE risk factors and idiopathic VTE among Blacks appears to be lower and higher, respectively, suggesting that heritability may be important in the etiology of VTE among Black-Americans. Am. J. Hematol. 85:467-471, 2010. V V C 2010 Wiley-Liss, Inc. IntroductionMost epidemiologic studies of venous thromboembolism (VTE) risk factors have been conducted within White-American and -European populations [1][2][3][4]. However, when compared with Whites, Black-Americans appear to have a higher risk for [5,6] and incidence of VTE [7][8][9][10]. Two single-nucleotide polymorphisms, factor V Leiden (G1691A) and prothrombin G20210A, have been identified as risk factors for deep vein thrombosis (DVT) and pulmonary embolism (PE) in Europeans and White-Americans, [11][12][13][14][15][16] but not Black-Americans [6,17,18]. We hypothesized that the apparent higher VTE incidence among Blacks might be due to an increased prevalence of known VTE risk factors. To test this hypothesis, we compared demographic and baseline clinical characteristics from White-and Black-Americans with objectively diagnosed VTE who were seen in one of the seven CDC Thrombosis and Hemostasis Research and Prevention Network centers.

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Section: Discussionmentioning

confidence: 99%

Comparison of characteristics from White‐ and Black‐Americans with venous thromboembolism: A cross‐sectional study

et al. 2010

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“…1 A positive family history is an independent risk factor for VTE that may reflect the presence of a hereditary thrombophilic disorder. However, the predictive value of a positive family history for detection of known heritable causes of VTE is low, 2,3 suggesting that there are as-yet undiscovered genetic or environmental risk factors that account for the familial clustering of this disorder.…”

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confidence: 99%

Importance of Family History as a Risk Factor for Venous Thromboembolism

Eikelboom

Weitz

2011

Circulation

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V enous thromboembolism (VTE) is a multifactorial disease with many known genetic and acquired risk factors. 1 A positive family history is an independent risk factor for VTE that may reflect the presence of a hereditary thrombophilic disorder. However, the predictive value of a positive family history for detection of known heritable causes of VTE is low, 2,3 suggesting that there are as-yet undiscovered genetic or environmental risk factors that account for the familial clustering of this disorder. Article see p 1012In the current edition of Circulation, Zöller and colleagues 4 present the results of their database linkage study that explored the role of family history as a risk factor for VTE. Using unique individual national identifiers to link data from the national Swedish Multigenerational Registry (a family data set that links second-generation Swedes born since 1932 with their siblings) with information from the Swedish Hospital Discharge Register (which contains complete data on all hospital discharge diagnoses since 1986), they identified 45 362 patients hospitalized for deep vein thrombosis, pulmonary embolism, thrombophlebitis (including superficial phlebitis), or thrombosis in unusual sites over a 21-year period. On the basis of results from other population-based epidemiological studies, the reported VTE incidence rates of 32.5 per 100 000 in male and 36.2 per 100 000 in female individuals are somewhat lower than expected, 5,6 likely reflecting the high rate of out-of-hospital VTE management in Sweden. 7 However, the exponential rise in incidence rates with increasing age is consistent with prior work. As previously reported, 5 there is a spike in incidence rates among female individuals 10 to 40 years of age, reflecting the reproductive period; a male predominance then emerges after 50 years of age.The most striking findings of the study by Zöller and colleagues were the increased incidence rates and standardized incidence ratios for VTE in patients with a history of VTE in Ն1 siblings and the effect of age on the standardized incidence ratios. The overall standardized incidence ratios ranged from 2 to 3, which is consistent with prior reports, 3 but the ratios were Ͼ20-fold higher among those with Ն2 affected proband siblings than those with a single affected proband sibling, making this one of the strongest risk factors for VTE identified to date (the Table). 8 The highest incidence rates among patients with a familial sibling history were observed in those Ն70 years of age (386.5 per 100 000 in male and 374.3 per 100 000 in female individuals), whereas the highest familial standardized incidence ratios occurred at much younger ages (ratio of 4.34 among male individuals 20 to 29 years of age and 5.49 among female individuals 10 to 19 years of age). Familial standardized incidence ratios declined with increasing age, reflecting the diminishing impact of family history as a risk factor for VTE at older ages. Environmental sharing appeared to have little effect on the risk of VTE, a finding that s...

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“…Some suggest testing only in those with a family history of VTE. However, information on family history is often unreliable, and a positive family history of VTE does not predict discovery of thrombophilia (8 ). In our practice, we recommend thrombophilia testing in any patient with unprovoked VTE who desires testing.…”

Section: Patient Selectionmentioning

confidence: 98%

Thrombophilia Testing in Women with Venous Thrombosis: The 4 P's Approach

Cushman

2014

Clinical Chemistry

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Family history and inherited thrombophilia

Cited by 64 publications

References 35 publications

Comparison of characteristics from White‐ and Black‐Americans with venous thromboembolism: A cross‐sectional study

Comparison of characteristics from White‐ and Black‐Americans with venous thromboembolism: A cross‐sectional study

Importance of Family History as a Risk Factor for Venous Thromboembolism

Thrombophilia Testing in Women with Venous Thrombosis: The 4 P's Approach

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