Thrombophilia epidemiology and demographics
Thrombophilia epidemiology and demographics On the Web
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Due to the multitude and complexity of inherited thrombophilias, the true prevalence is unknown; current data may be providing an underestimate. The prevalence of thrombophilia in Caucasians is approximately 10-7,000 per 100,000 individuals worldwide. The prevalence of inherited thrombophilias, specifically, activated protein C resistance and prothrombin G20210A , rises to approximately 10-60% in patients with documented venous thrombosis compared to less than 10% among patients without documented venous thrombosis. The incidence of inherited thrombophilia in incident venous thrombosis is approximately 150-840 per 100,000 person years. The incidence of inherited thrombophilia in recurrent venous thrombosis is approximately 3,500-10,500 per 100,000 person-years.
Epidemiology and Demographics
- The epidemiology of thrombosis varies depending upon the following factors:
- Venous vs Arterial
- Provoked vs Unprovoked
- First episode vs Subsequent episode
- Inherited thrombophilia: The incidence of incident and recurrent venous thrombosis in inherited disorders is approximately 150-840 and 3,500-10,500 per 100,000 individuals respectively. 
- Venous thromboembolism: It is the second most common cardiovascular disorder following myocardial infarction and more frequent than stroke with the incidence range of 1-5 in 1000 per year in the general population. Its annual incidence is age dependent which follow as:
- Children: 1 per 100000 per year
- Adults: 1 per 1000 per year
- Elderly: 1 per 100 per year 
- Frequency of thrombophilias:
|Inherited thrombophilia||Healthy subjects/General population (%)||Patients with recurrent thrombosis (%)|
|Factor V Leiden||1 - 20||18 - 50|
|Prothrombin G20210A||2 - 8||7 - 20|
|Antithrombin deficiency||0.02-2||1 - 5|
|Protein C deficiency||0.2 - 5||3 - 10|
|Protein S deficiency||0.3 - 3||2 - 10|
|Elevated factor VIII levels||11||25|
- Thrombophilias may develop in patients irrespective of their age groups.
- Acquired thrombophilias: They are more commonly observed among elderly patients who are more than 60 years old.
- Inherited thrombophilias: Young patients between 40-55 years old more likely carries the risk of inherited thrombophilias.
- Several epidemiologic studies have reported mixed results regarding the effect of gender on venous thrombosis.
- Certain groups observed an increased risk of thrombosis in younger females and older males, while others found similar frequencies in both the genders.
- Christiansen et al conducted a prospective follow up study in patients with inherited thrombophilias, and revealed an age corrected hazard ratio of 2.7 for recurrent thrombosis in male patients compared to women. 
- The Factor V Leiden G1691A and prothrombin G20210A mutations usually affects individuals of the Caucasian race in comparison to non-white individuals. 
Factor V Leiden
- The most frequent form of inherited thrombophilia is Factor V Leiden with 20-50% prevalence in patients with recurrent venous thrombosis.
- The prevalence of Factor V Leiden thrombophilia in African and Asian populations is approximately 500 per 100,000 individuals worldwide.
- The second most frequent form of inherited thrombophilia is prothrombin G20210A.
- Its prevalence in African and Asian populations is approximately 600 per 100,000 individuals worldwide.
Protein C deficiency
- Mild protein C deficiency: 1 in 200 to 1 in 500 individuals. 
- Clinically significant protein C deficiency: 1 in 20000 people.
- Severe protein C deficiency: Rarely found among 1 in 4 million infants which may be attributable to underdiagnosis or under-reporting. 
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