Thrombophilia epidemiology and demographics: Difference between revisions

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__NOTOC__
__NOTOC__
{{Thrombophilia}}
{{Thrombophilia}}
{{CMG}} {{asiri}}
{{CMG}} {{AE}} {{asiri}} {{JK}}


==Overview==
==Overview==
* Due to the multitude and complexity of inherited thrombophilias, the true prevalence is unknown. Current data may be providing an underestimate. Comparison among different epidemiologic studies becomes difficult due to variation in study design and inclusion criteria.
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.<ref name="pmid26780744">{{cite journal| author=Stevens SM, Woller SC, Bauer KA, Kasthuri R, Cushman M, Streiff M et al.| title=Guidance for the evaluation and treatment of hereditary and acquired thrombophilia. | journal=J Thromb Thrombolysis | year= 2016 | volume= 41 | issue= 1 | pages= 154-64 | pmid=26780744 | doi=10.1007/s11239-015-1316-1 | pmc=4715840 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26780744  }} </ref><ref name="pmid11309638">{{cite journal| author=Seligsohn U, Lubetsky A| title=Genetic susceptibility to venous thrombosis. | journal=N Engl J Med | year= 2001 | volume= 344 | issue= 16 | pages= 1222-31 | pmid=11309638 | doi=10.1056/NEJM200104193441607 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11309638  }} </ref> 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]].<ref name="pmid9669991">{{cite journal| author=Margaglione M, Brancaccio V, Giuliani N, D'Andrea G, Cappucci G, Iannaccone L et al.| title=Increased risk for venous thrombosis in carriers of the prothrombin G-->A20210 gene variant. | journal=Ann Intern Med | year= 1998 | volume= 129 | issue= 2 | pages= 89-93 | pmid=9669991 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9669991  }} </ref><ref name="pmid7877648">{{cite journal| author=Ridker PM, Hennekens CH, Lindpaintner K, Stampfer MJ, Eisenberg PR, Miletich JP| title=Mutation in the gene coding for coagulation factor V and the risk of myocardial infarction, stroke, and venous thrombosis in apparently healthy men. | journal=N Engl J Med | year= 1995 | volume= 332 | issue= 14 | pages= 912-7 | pmid=7877648 | doi=10.1056/NEJM199504063321403 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7877648  }} </ref><ref name="pmid7902898">{{cite journal| author=Koster T, Rosendaal FR, de Ronde H, Briët E, Vandenbroucke JP, Bertina RM| title=Venous thrombosis due to poor anticoagulant response to activated protein C: Leiden Thrombophilia Study. | journal=Lancet | year= 1993 | volume= 342 | issue= 8886-8887 | pages= 1503-6 | pmid=7902898 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7902898  }} </ref> The incidence of inherited thrombophilia in incident venous thrombosis is approximately 150-840 per 100,000 person years.<ref name="pmid24421360">{{cite journal| author=Cohoon KP, Heit JA| title=Inherited and secondary thrombophilia. | journal=Circulation | year= 2014 | volume= 129 | issue= 2 | pages= 254-7 | pmid=24421360 | doi=10.1161/CIRCULATIONAHA.113.001943 | pmc=3979345 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24421360  }} </ref> The incidence of inherited thrombophilia in recurrent venous thrombosis is approximately 3,500-10,500 per 100,000 person-years.<ref name="pmid24421360">{{cite journal| author=Cohoon KP, Heit JA| title=Inherited and secondary thrombophilia. | journal=Circulation | year= 2014 | volume= 129 | issue= 2 | pages= 254-7 | pmid=24421360 | doi=10.1161/CIRCULATIONAHA.113.001943 | pmc=3979345 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24421360  }} </ref>
* Prevalence of common inherited thrombophilias is variable among both healthy patients and patients with recurrent thrombosis.  
* According to epidemiologic and modeling studies obtained from certain sources<ref name="pmid26780744">{{cite journal| author=Stevens SM, Woller SC, Bauer KA, Kasthuri R, Cushman M, Streiff M et al.| title=Guidance for the evaluation and treatment of hereditary and acquired thrombophilia. | journal=J Thromb Thrombolysis | year= 2016 | volume= 41 | issue= 1 | pages= 154-64 | pmid=26780744 | doi=10.1007/s11239-015-1316-1 | pmc=4715840 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26780744  }} </ref><ref name="pmid11309638">{{cite journal| author=Seligsohn U, Lubetsky A| title=Genetic susceptibility to venous thrombosis. | journal=N Engl J Med | year= 2001 | volume= 344 | issue= 16 | pages= 1222-31 | pmid=11309638 | doi=10.1056/NEJM200104193441607 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11309638  }} </ref>, the prevalence of inherited thrombophilias was estimated to be between 0.01-7% in caucasians.
* The prevalence of inherited thrombophilias, specifically, activated protein C resistance and prothrombin G20210A, rises to approximately 24-37% in patients with documented venous thrombosis compared to less than 10% among controls<ref name="pmid9669991">{{cite journal| author=Margaglione M, Brancaccio V, Giuliani N, D'Andrea G, Cappucci G, Iannaccone L et al.| title=Increased risk for venous thrombosis in carriers of the prothrombin G-->A20210 gene variant. | journal=Ann Intern Med | year= 1998 | volume= 129 | issue= 2 | pages= 89-93 | pmid=9669991 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9669991  }} </ref><ref name="pmid7877648">{{cite journal| author=Ridker PM, Hennekens CH, Lindpaintner K, Stampfer MJ, Eisenberg PR, Miletich JP| title=Mutation in the gene coding for coagulation factor V and the risk of myocardial infarction, stroke, and venous thrombosis in apparently healthy men. | journal=N Engl J Med | year= 1995 | volume= 332 | issue= 14 | pages= 912-7 | pmid=7877648 | doi=10.1056/NEJM199504063321403 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7877648  }} </ref><ref name="pmid7902898">{{cite journal| author=Koster T, Rosendaal FR, de Ronde H, Briët E, Vandenbroucke JP, Bertina RM| title=Venous thrombosis due to poor anticoagulant response to activated protein C: Leiden Thrombophilia Study. | journal=Lancet | year= 1993 | volume= 342 | issue= 8886-8887 | pages= 1503-6 | pmid=7902898 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7902898  }} </ref>.
* The incidence of inherited thrombophilia in incident venous thrombosis is approximately 150-840 per 100,000 person years<ref name="pmid24421360">{{cite journal| author=Cohoon KP, Heit JA| title=Inherited and secondary thrombophilia. | journal=Circulation | year= 2014 | volume= 129 | issue= 2 | pages= 254-7 | pmid=24421360 | doi=10.1161/CIRCULATIONAHA.113.001943 | pmc=3979345 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24421360  }} </ref>.
* The incidence of inherited thrombophilia in recurrent venous thrombosis is approximately 3,500-10,500 per 100,000 person-years<ref name="pmid24421360">{{cite journal| author=Cohoon KP, Heit JA| title=Inherited and secondary thrombophilia. | journal=Circulation | year= 2014 | volume= 129 | issue= 2 | pages= 254-7 | pmid=24421360 | doi=10.1161/CIRCULATIONAHA.113.001943 | pmc=3979345 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24421360  }} </ref>.
===Age===
*Patients of all age groups may develop thrombophilias. 
*Inherited thrombophilias are more commonly observed among patients aged <40-55 years old.
*Acquired thrombophilias are more commonly observed among elderly patients (age > 60) as age is a risk factor for thrombosis.
===Gender===
*Epidemiologic studies have provided mixed results regarding the effect of gender on venous thrombosis. Certain groups observed increased risk of throbmosis in younger femals and older males, whereas other groups found similar frequencies in both genders<ref name="pmid12814979">{{cite journal| author=White RH| title=The epidemiology of venous thromboembolism. | journal=Circulation | year= 2003 | volume= 107 | issue= 23 Suppl 1 | pages= I4-8 | pmid=12814979 | doi=10.1161/01.CIR.0000078468.11849.66 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12814979  }} </ref>.
===Race===
* The factor V leiden G1691A and prothrombin G20210A mutations are exceedingly rare in non-white populations<ref name="pmid11309638">{{cite journal| author=Seligsohn U, Lubetsky A| title=Genetic susceptibility to venous thrombosis. | journal=N Engl J Med | year= 2001 | volume= 344 | issue= 16 | pages= 1222-31 | pmid=11309638 | doi=10.1056/NEJM200104193441607 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11309638  }} </ref>.


==Epidemiology and Demographics==
==Epidemiology and Demographics==
===Prevalence of various inherited thrombophilias among Whites===


{| border="1" cellpadding="5" cellspacing="0" align="center" class="sortable"
===Incidence===
 
*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. <ref name="pmid24421360">{{cite journal| author=Cohoon KP, Heit JA| title=Inherited and secondary thrombophilia. | journal=Circulation | year= 2014 | volume= 129 | issue= 2 | pages= 254-7 | pmid=24421360 | doi=10.1161/CIRCULATIONAHA.113.001943 | pmc=3979345 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24421360  }} </ref>
*'''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 <ref name="pmid17367492">{{cite journal| author=Naess IA, Christiansen SC, Romundstad P, Cannegieter SC, Rosendaal FR, Hammerstrøm J| title=Incidence and mortality of venous thrombosis: a population-based study. | journal=J Thromb Haemost | year= 2007 | volume= 5 | issue= 4 | pages= 692-9 | pmid=17367492 | doi=10.1111/j.1538-7836.2007.02450.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17367492  }} </ref>
*'''Frequency of thrombophilias:'''
**'''APS, APC resistance, elevated factor VIII:''' 25 to 28% <ref name="pmid11700155">{{cite journal| author=Thomas RH| title=Hypercoagulability syndromes. | journal=Arch Intern Med | year= 2001 | volume= 161 | issue= 20 | pages= 2433-9 | pmid=11700155 | doi=10.1001/archinte.161.20.2433 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11700155  }} </ref>
**'''Protein C deficiency, Protein S deficiency, Hyperhomocysteinemia and Prothrombin mutation:''' 5 to 10% <ref name="pmid11700155">{{cite journal| author=Thomas RH| title=Hypercoagulability syndromes. | journal=Arch Intern Med | year= 2001 | volume= 161 | issue= 20 | pages= 2433-9 | pmid=11700155 | doi=10.1001/archinte.161.20.2433 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11700155  }} </ref>
**'''Pulmonary embolism:''' 29 to 48 per 100000 person-years
**'''Deep vein thrombosis:''' 45 to 117 per 100000 person-years <ref name="pmid26780736">{{cite journal| author=Heit JA, Spencer FA, White RH| title=The epidemiology of venous thromboembolism. | journal=J Thromb Thrombolysis | year= 2016 | volume= 41 | issue= 1 | pages= 3-14 | pmid=26780736 | doi=10.1007/s11239-015-1311-6 | pmc=4715842 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26780736  }} </ref>
 
===Prevalence===
The prevalence of thrombophilia in Caucasian populations is:<ref name="pmid11309638">{{cite journal |author=Seligsohn U, Lubetsky A|title=Genetic susceptibility to venous thrombosis |journal=N. Engl. J. Med. |volume=344 |issue=16 |pages=1222–31 |year=2001 |month=April |pmid=11309638|doi=10.1056/NEJM200104193441607 |url=}}</ref><ref name="pmid24421360">{{cite journal| author=Cohoon KP, Heit JA| title=Inherited and secondary thrombophilia. | journal=Circulation | year= 2014 | volume= 129 | issue= 2 | pages= 254-7 | pmid=24421360 | doi=10.1161/CIRCULATIONAHA.113.001943 | pmc=3979345 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24421360  }} </ref><ref name="pmid12787534">{{cite journal |author=Buchanan GS, Rodgers GM, Ware Branch D |title=The inherited thrombophilias: genetics, epidemiology, and laboratory evaluation |journal=Best Pract Res Clin Obstet Gynaecol |volume=17 |issue=3 |pages=397–411 |year=2003 |month=June |pmid=12787534 |doi= |url=}}</ref><ref name="pmid11702218">{{cite journal |author=Franco RF, Reitsma PH |title=Genetic risk factors of venous thrombosis |journal=Hum. Genet. |volume=109 |issue=4 |pages=369–84 |year=2001 |month=October |pmid=11702218 |doi=10.1007/s004390100593 |url=}}</ref><ref name="pmid7740487">{{cite journal |author=Haverkate F, Samama M |title=Familial dysfibrinogenemia and thrombophilia. Report on a study of the SSC Subcommittee on Fibrinogen |journal=Thromb. Haemost. |volume=73 |issue=1 |pages=151–61 |year=1995 |month=January |pmid=7740487 |doi= |url=}}</ref>
{| class="wikitable"
|-
|-
  ! Inherited thrombophilia
! Inherited thrombophilia
  ! Healthy subjects/General population (%)
! Healthy subjects/General population (%)
  ! Patients with recurrent thrombosis (%)
! Patients with recurrent thrombosis (%)
|-
|-
  | [[Factor V Leiden]]
| [[Factor V Leiden]]
  | 1 - 20
| 1 - 20
  | 18 - 50
| 18 - 50
|-
|-
  | [[Prothrombin]] G20210A
| [[Prothrombin]] G20210A
  | 2 - 8
| 2 - 8
  | 7 - 20
| 7 - 20
|-
|-
  | [[Antithrombin deficiency]]
| [[Antithrombin deficiency]]
  | 0.02-2
| 0.02-2
  | 1 - 5
| 1 - 5
|-
|-
  | [[Dysfibrinogenemia]]
| Dysfibrinogenemia
  | <1
| <1
  | <1
| <1
|-
|-
  | [[Protein C deficiency]]
| [[Protein C deficiency]]
  | 0.2 - 5
| 0.2 - 5
  | 3 - 10
| 3 - 10
|-
|-
  | [[Protein S deficiency]]
| [[Protein S deficiency]]
  | 0.3 - 3
| 0.3 - 3
  | 2 - 10
| 2 - 10
|-
|-
  | [[Hyperhomocystenemia]]
| Hyperhomocystenemia
  | <5
| <5
  | <10
| <10
|-
|-
  | Elevated [[factor VIII]] levels
| Elevated [[factor VIII]] levels
  | 11
| 11
  | 25
| 25
|-
|-
|}
|}


* In African and Asian patients, the prevalence of factor V leiden was approximately 0.05% and the prevalence of prothrombin G20210A was approximately 0.06%.  
===Age===
*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.


This data was extracted from Best Pract Res Clin Obstet Gynaecol. 2003 Jun;17(3):397-411, N Engl J Med 2001; 344:1222-1231, and Circulation. 2014 Jan 14; 129(2): 254–257
===Gender===
*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.<ref name="pmid12814979">{{cite journal| author=White RH| title=The epidemiology of venous thromboembolism. | journal=Circulation | year= 2003 | volume= 107 | issue= 23 Suppl 1 | pages= I4-8 | pmid=12814979 | doi=10.1161/01.CIR.0000078468.11849.66 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12814979  }} </ref> 
*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. <ref name="pmid15900005">{{cite journal| author=Christiansen SC, Cannegieter SC, Koster T, Vandenbroucke JP, Rosendaal FR| title=Thrombophilia, clinical factors, and recurrent venous thrombotic events. | journal=JAMA | year= 2005 | volume= 293 | issue= 19 | pages= 2352-61 | pmid=15900005 | doi=10.1001/jama.293.19.2352 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15900005  }}  [http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17213089 Review in: Evid Based Med. 2006 Apr;11(2):59] </ref>


<ref name="pmid12787534">{{cite journal |author=Buchanan GS, Rodgers GM, Ware Branch D |title=The inherited thrombophilias: genetics, epidemiology, and laboratory evaluation |journal=Best Pract Res Clin Obstet Gynaecol |volume=17 |issue=3 |pages=397–411 |year=2003 |month=June |pmid=12787534 |doi= |url=}}</ref><ref name="pmid11309638">{{cite journal |author=Seligsohn U, Lubetsky A|title=Genetic susceptibility to venous thrombosis |journal=N. Engl. J. Med. |volume=344 |issue=16 |pages=1222–31 |year=2001 |month=April |pmid=11309638|doi=10.1056/NEJM200104193441607 |url=}}</ref><ref name="pmid11702218">{{cite journal |author=Franco RF, Reitsma PH |title=Genetic risk factors of venous thrombosis |journal=Hum. Genet. |volume=109 |issue=4 |pages=369–84 |year=2001 |month=October |pmid=11702218 |doi=10.1007/s004390100593 |url=}}</ref><ref name="pmid7740487">{{cite journal |author=Haverkate F, Samama M |title=Familial dysfibrinogenemia and thrombophilia. Report on a study of the SSC Subcommittee on Fibrinogen |journal=Thromb. Haemost. |volume=73 |issue=1 |pages=151–61 |year=1995 |month=January |pmid=7740487 |doi= |url=}}</ref><ref name="pmid24421360">{{cite journal| author=Cohoon KP, Heit JA| title=Inherited and secondary thrombophilia. | journal=Circulation | year= 2014 | volume= 129 | issue= 2 | pages= 254-7 | pmid=24421360 | doi=10.1161/CIRCULATIONAHA.113.001943 | pmc=3979345 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24421360  }} </ref>.
===Race===
*The [[Factor V Leiden]] G1691A and [[prothrombin]] G20210A mutations usually affects individuals of the '''Caucasian race''' in comparison to non-white individuals. <ref name="pmid11309638">{{cite journal| author=Seligsohn U, Lubetsky A| title=Genetic susceptibility to venous thrombosis. | journal=N Engl J Med | year= 2001 | volume= 344 | issue= 16 | pages= 1222-31 | pmid=11309638 | doi=10.1056/NEJM200104193441607 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11309638  }} </ref>
 
====Factor V Leiden====
*The most frequent form of inherited thrombophilia is [[Factor V Leiden]] with '''20-50% prevalence''' in patients with r'''ecurrent venous thrombosis'''.
*The prevalence of [[Factor V Leiden]] thrombophilia in African and Asian populations is approximately '''500 per 100,000 individuals''' worldwide.<ref name="pmid11309638">{{cite journal| author=Seligsohn U, Lubetsky A| title=Genetic susceptibility to venous thrombosis. | journal=N Engl J Med | year= 2001 | volume= 344 | issue= 16 | pages= 1222-31 | pmid=11309638 | doi=10.1056/NEJM200104193441607 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11309638  }} </ref><ref name="pmid24421360">{{cite journal| author=Cohoon KP, Heit JA| title=Inherited and secondary thrombophilia. | journal=Circulation | year= 2014 | volume= 129 | issue= 2 | pages= 254-7 | pmid=24421360 | doi=10.1161/CIRCULATIONAHA.113.001943 | pmc=3979345 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24421360  }} </ref>
 
====Prothrombin G20210A====
*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.<ref name="pmid11309638">{{cite journal| author=Seligsohn U, Lubetsky A| title=Genetic susceptibility to venous thrombosis. | journal=N Engl J Med | year= 2001 | volume= 344 | issue= 16 | pages= 1222-31 | pmid=11309638 | doi=10.1056/NEJM200104193441607 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11309638  }} </ref><ref name="pmid24421360">{{cite journal| author=Cohoon KP, Heit JA| title=Inherited and secondary thrombophilia. | journal=Circulation | year= 2014 | volume= 129 | issue= 2 | pages= 254-7 | pmid=24421360 | doi=10.1161/CIRCULATIONAHA.113.001943 | pmc=3979345 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24421360  }} </ref>
 
====Protein C deficiency====
*'''Mild protein C deficiency:''' 1 in 200 to 1 in 500 individuals. <ref name="pmid7740502">{{cite journal| author=Tait RC, Walker ID, Reitsma PH, Islam SI, McCall F, Poort SR | display-authors=etal| title=Prevalence of protein C deficiency in the healthy population. | journal=Thromb Haemost | year= 1995 | volume= 73 | issue= 1 | pages= 87-93 | pmid=7740502 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7740502  }} </ref>
*'''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. <ref name="pmid19141162">{{cite journal| author=Goldenberg NA, Manco-Johnson MJ| title=Protein C deficiency. | journal=Haemophilia | year= 2008 | volume= 14 | issue= 6 | pages= 1214-21 | pmid=19141162 | doi=10.1111/j.1365-2516.2008.01838.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19141162  }} </ref>


==References==
==References==
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Latest revision as of 19:28, 11 March 2021

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Asiri Ediriwickrema, M.D., M.H.S. [2] Jaspinder Kaur, MBBS[3]

Overview

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.[1][2] 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.[3][4][5] The incidence of inherited thrombophilia in incident venous thrombosis is approximately 150-840 per 100,000 person years.[6] The incidence of inherited thrombophilia in recurrent venous thrombosis is approximately 3,500-10,500 per 100,000 person-years.[6]

Epidemiology and Demographics

Incidence

  • 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. [6]
  • 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 [7]
  • Frequency of thrombophilias:
    • APS, APC resistance, elevated factor VIII: 25 to 28% [8]
    • Protein C deficiency, Protein S deficiency, Hyperhomocysteinemia and Prothrombin mutation: 5 to 10% [8]
    • Pulmonary embolism: 29 to 48 per 100000 person-years
    • Deep vein thrombosis: 45 to 117 per 100000 person-years [9]

Prevalence

The prevalence of thrombophilia in Caucasian populations is:[2][6][10][11][12]

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
Dysfibrinogenemia <1 <1
Protein C deficiency 0.2 - 5 3 - 10
Protein S deficiency 0.3 - 3 2 - 10
Hyperhomocystenemia <5 <10
Elevated factor VIII levels 11 25

Age

  • 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.

Gender

  • 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.[13]
  • 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. [14]

Race

  • The Factor V Leiden G1691A and prothrombin G20210A mutations usually affects individuals of the Caucasian race in comparison to non-white individuals. [2]

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.[2][6]

Prothrombin G20210A

  • 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.[2][6]

Protein C deficiency

  • Mild protein C deficiency: 1 in 200 to 1 in 500 individuals. [15]
  • 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. [16]

References

  1. ↑ Stevens SM, Woller SC, Bauer KA, Kasthuri R, Cushman M, Streiff M; et al. (2016). "Guidance for the evaluation and treatment of hereditary and acquired thrombophilia". J Thromb Thrombolysis. 41 (1): 154–64. doi:10.1007/s11239-015-1316-1. PMC 4715840. PMID 26780744.
  2. ↑ 2.0 2.1 2.2 2.3 2.4 Seligsohn U, Lubetsky A (2001). "Genetic susceptibility to venous thrombosis". N Engl J Med. 344 (16): 1222–31. doi:10.1056/NEJM200104193441607. PMID 11309638.
  3. ↑ Margaglione M, Brancaccio V, Giuliani N, D'Andrea G, Cappucci G, Iannaccone L; et al. (1998). "Increased risk for venous thrombosis in carriers of the prothrombin G-->A20210 gene variant". Ann Intern Med. 129 (2): 89–93. PMID 9669991.
  4. ↑ Ridker PM, Hennekens CH, Lindpaintner K, Stampfer MJ, Eisenberg PR, Miletich JP (1995). "Mutation in the gene coding for coagulation factor V and the risk of myocardial infarction, stroke, and venous thrombosis in apparently healthy men". N Engl J Med. 332 (14): 912–7. doi:10.1056/NEJM199504063321403. PMID 7877648.
  5. ↑ Koster T, Rosendaal FR, de Ronde H, Briët E, Vandenbroucke JP, Bertina RM (1993). "Venous thrombosis due to poor anticoagulant response to activated protein C: Leiden Thrombophilia Study". Lancet. 342 (8886–8887): 1503–6. PMID 7902898.
  6. ↑ 6.0 6.1 6.2 6.3 6.4 6.5 Cohoon KP, Heit JA (2014). "Inherited and secondary thrombophilia". Circulation. 129 (2): 254–7. doi:10.1161/CIRCULATIONAHA.113.001943. PMC 3979345. PMID 24421360.
  7. ↑ Naess IA, Christiansen SC, Romundstad P, Cannegieter SC, Rosendaal FR, Hammerstrøm J (2007). "Incidence and mortality of venous thrombosis: a population-based study". J Thromb Haemost. 5 (4): 692–9. doi:10.1111/j.1538-7836.2007.02450.x. PMID 17367492.
  8. ↑ 8.0 8.1 Thomas RH (2001). "Hypercoagulability syndromes". Arch Intern Med. 161 (20): 2433–9. doi:10.1001/archinte.161.20.2433. PMID 11700155.
  9. ↑ Heit JA, Spencer FA, White RH (2016). "The epidemiology of venous thromboembolism". J Thromb Thrombolysis. 41 (1): 3–14. doi:10.1007/s11239-015-1311-6. PMC 4715842. PMID 26780736.
  10. ↑ Buchanan GS, Rodgers GM, Ware Branch D (2003). "The inherited thrombophilias: genetics, epidemiology, and laboratory evaluation". Best Pract Res Clin Obstet Gynaecol. 17 (3): 397–411. PMID 12787534. Unknown parameter |month= ignored (help)
  11. ↑ Franco RF, Reitsma PH (2001). "Genetic risk factors of venous thrombosis". Hum. Genet. 109 (4): 369–84. doi:10.1007/s004390100593. PMID 11702218. Unknown parameter |month= ignored (help)
  12. ↑ Haverkate F, Samama M (1995). "Familial dysfibrinogenemia and thrombophilia. Report on a study of the SSC Subcommittee on Fibrinogen". Thromb. Haemost. 73 (1): 151–61. PMID 7740487. Unknown parameter |month= ignored (help)
  13. ↑ White RH (2003). "The epidemiology of venous thromboembolism". Circulation. 107 (23 Suppl 1): I4–8. doi:10.1161/01.CIR.0000078468.11849.66. PMID 12814979.
  14. ↑ Christiansen SC, Cannegieter SC, Koster T, Vandenbroucke JP, Rosendaal FR (2005). "Thrombophilia, clinical factors, and recurrent venous thrombotic events". JAMA. 293 (19): 2352–61. doi:10.1001/jama.293.19.2352. PMID 15900005. Review in: Evid Based Med. 2006 Apr;11(2):59
  15. ↑ Tait RC, Walker ID, Reitsma PH, Islam SI, McCall F, Poort SR; et al. (1995). "Prevalence of protein C deficiency in the healthy population". Thromb Haemost. 73 (1): 87–93. PMID 7740502.
  16. ↑ Goldenberg NA, Manco-Johnson MJ (2008). "Protein C deficiency". Haemophilia. 14 (6): 1214–21. doi:10.1111/j.1365-2516.2008.01838.x. PMID 19141162.

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