Thrombophilia natural history, complications and prognosis: Difference between revisions

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{{Thrombophilia}}
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==Overview==
==Overview==
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==Natural History==
==Natural History==
* Refer to the [[Thrombophilia_history_and_symptoms|clinical symptoms]] section regarding early clinical features of patients with thrombophilia. 
*If left untreated, the annual incidence of incident thrombosis in asymptomatic patients with [[Factor V Leiden]] and [[Prothrombin G20210A]] is low (<0.06%).<ref name="pmid15254285">{{cite journal| author=Bates SM, Ginsberg JS| title=Clinical practice. Treatment of deep-vein thrombosis. | journal=N Engl J Med | year= 2004 | volume= 351 | issue= 3 | pages= 268-77 | pmid=15254285 | doi=10.1056/NEJMcp031676 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15254285  }} </ref> The risk is approximately equivalent to treatment with [[Oral_contraceptive|oral contraceptives (OCPs)].
* If left untreated, the annual incidence of incident thrombosis in asymptomatic patients with [[Factor V Leiden]] and ([https://en.wikipedia.org/wiki/Prothrombin_G20210A Prothrombin G20210A]) (<0.06%) is low.<ref name="pmid15254285">{{cite journal| author=Bates SM, Ginsberg JS| title=Clinical practice. Treatment of deep-vein thrombosis. | journal=N Engl J Med | year= 2004 | volume= 351 | issue= 3 | pages= 268-77 | pmid=15254285 | doi=10.1056/NEJMcp031676 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15254285  }} </ref> The risk is approximately equivalent to treatment with [[Oral_contraceptive|oral contraceptives (OCPs)]]. Whereas the annual incidence of significant bleeds is approximately 2-3%.<ref name="pmid14644891">{{cite journal| author=Linkins LA, Choi PT, Douketis JD| title=Clinical impact of bleeding in patients taking oral anticoagulant therapy for venous thromboembolism: a meta-analysis. | journal=Ann Intern Med | year= 2003 | volume= 139 | issue= 11 | pages= 893-900 | pmid=14644891 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=14644891  }} </ref>   
*In patients on oral anticoagulant therapy for venous thromboembolism, the annual incidence of significant bleeds is approximately 2-3%.<ref name="pmid14644891">{{cite journal| author=Linkins LA, Choi PT, Douketis JD| title=Clinical impact of bleeding in patients taking oral anticoagulant therapy for venous thromboembolism: a meta-analysis. | journal=Ann Intern Med | year= 2003 | volume= 139 | issue= 11 | pages= 893-900 | pmid=14644891 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=14644891  }} </ref>   
* Studies performed by Christiansen et al and Baglin et al revealed that inherited thrombophilia from factor V leiden and prothrombin G20210A did not predict for recurrent thrombosis.<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="pmid12932383">{{cite journal| author=Baglin T, Luddington R, Brown K, Baglin C| title=Incidence of recurrent venous thromboembolism in relation to clinical and thrombophilic risk factors: prospective cohort study. | journal=Lancet | year= 2003 | volume= 362 | issue= 9383 | pages= 523-6 | pmid=12932383 | doi=10.1016/S0140-6736(03)14111-6 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12932383  }} </ref>  
*Inherited thrombophilia from [[Factor V Leiden]] and [[Prothrombin G20210A]] did not predict for recurrent thrombosis.<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="pmid12932383">{{cite journal| author=Baglin T, Luddington R, Brown K, Baglin C| title=Incidence of recurrent venous thromboembolism in relation to clinical and thrombophilic risk factors: prospective cohort study. | journal=Lancet | year= 2003 | volume= 362 | issue= 9383 | pages= 523-6 | pmid=12932383 | doi=10.1016/S0140-6736(03)14111-6 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12932383  }} </ref>  
* Christiansen et al and De Stefano et al observed a mild increased risk for recurrent thrombosis in patients with [[Protein_C|protein C]], [[Protein_S|protein S]], and [[antithrombin]] deficiency.<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="pmid16670075">{{cite journal| author=De Stefano V, Simioni P, Rossi E, Tormene D, Za T, Pagnan A et al.| title=The risk of recurrent venous thromboembolism in patients with inherited deficiency of natural anticoagulants antithrombin, protein C and protein S. | journal=Haematologica | year= 2006 | volume= 91 | issue= 5 | pages= 695-8 | pmid=16670075 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16670075  }} </ref>   
*In untreated patients with [[Protein_C|protein C]], [[Protein_S|protein S]], and [[antithrombin]] deficiencies, there is an increased risk for recurrent thrombosis.<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="pmid16670075">{{cite journal| author=De Stefano V, Simioni P, Rossi E, Tormene D, Za T, Pagnan A et al.| title=The risk of recurrent venous thromboembolism in patients with inherited deficiency of natural anticoagulants antithrombin, protein C and protein S. | journal=Haematologica | year= 2006 | volume= 91 | issue= 5 | pages= 695-8 | pmid=16670075 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16670075  }} </ref>   
* OCPs, hormone replacement therapy, and pregnancy can significantly increase thrombotic risk in patients with thrombophilia.<ref name="pmid18501222">{{cite journal| author=Dalen JE| title=Should patients with venous thromboembolism be screened for thrombophilia? | journal=Am J Med | year= 2008 | volume= 121 | issue= 6 | pages= 458-63 | pmid=18501222 | doi=10.1016/j.amjmed.2007.10.042 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18501222  }} </ref>  
*[[Oral contraceptives]], [[hormone replacement therapy]], and [[pregnancy]] can significantly increase thrombotic risk in patients with thrombophilia.<ref name="pmid18501222">{{cite journal| author=Dalen JE| title=Should patients with venous thromboembolism be screened for thrombophilia? | journal=Am J Med | year= 2008 | volume= 121 | issue= 6 | pages= 458-63 | pmid=18501222 | doi=10.1016/j.amjmed.2007.10.042 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18501222  }} </ref>  
* Certain high risk thrombophilias require indefinate [[anticoagulant|anticoagulation]].  
*Certain high risk thrombophilias require indefinite [[anticoagulant|anticoagulation]].  


==Complications==
==Complications==
* The primary complication of thrombophilia is the development of [[Thrombus|blood clots]]
*The primary complication of thrombophilia is the development of [[Thrombus|blood clots]]
* Patients with primary hypercoagulable states develop thrombosis mostly in the settting of aquired risk factors which include [[trauma]], [[surgery]], [[immobility]], pregnancy and use of OCPs.
*Common complications of thrombophilia include [[deep vein thrombosis]] and [[pulmonary embolism]]  
* [[Deep vein thrombosis]] and [[pulmonary embolus]] are the most common complications.


'''The risk of future thrombosis in patients with thrombophilia:'''
'''The risk of future thrombosis in patients with thrombophilia:'''
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! style="font-weight: bold;" |Thrombotic risk<ref name="pmid15254285">{{cite journal| author=Bates SM, Ginsberg JS| title=Clinical practice. Treatment of deep-vein thrombosis. | journal=N Engl J Med | year= 2004 | volume= 351 | issue= 3 | pages= 268-77 | pmid=15254285 | doi=10.1056/NEJMcp031676 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15254285  }} </ref>
! style="font-weight: bold;" |Thrombotic risk<ref name="pmid15254285">{{cite journal| author=Bates SM, Ginsberg JS| title=Clinical practice. Treatment of deep-vein thrombosis. | journal=N Engl J Med | year= 2004 | volume= 351 | issue= 3 | pages= 268-77 | pmid=15254285 | doi=10.1056/NEJMcp031676 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15254285  }} </ref>
|-
|-
| Trauma/General surgery
| [[Trauma]]/[[General surgery]]
| Modest
| Modest
|-
|-
| Age > 60
| [[Elderly|Age > 60]]
| Modest
| Modest
|-
|-
| Immobilization
| [[Immobilization]]
| Modest
| Modest
|-
|-
| Pregnancy
| [[Pregnancy]]
| Modest
| Modest
|-
|-
| Hormone therapies
| [[Hormone therapy|Hormone therapies]]
| Modest
| Modest
|-
|-
| Factor V Leiden heterozygosity
| [[Factor V Leiden]] heterozygosity
| Modest
| Modest
|-
|-
| Prothrombin mutation
| [[Prothrombin]] mutation
| Modest
| Modest
|-
|-
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| Intermediate
| Intermediate
|-
|-
| Malignancy
| [[Malignancy]]
| High
| High
|-
|-
| APLS/Lupus anticoagulant
| APLS/[[Lupus anticoagulant]]
| High
| High
|-
|-
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| High
| High
|-
|-
| Orthopedic surgery
| [[Orthopedic surgery]]
| High
| High
|-
|-
| Antithrombin deficiency
| [[Antithrombin deficiency]]
| High
| High
|-
|-
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| 1
| 1
|-
|-
| Factor V leiden heterozygous
| [[Factor V Leiden]] heterozygous
| 0.06
| 0.06
| 3-10
| 3-10
|-
|-
| Factor V leiden homozygous
| [[Factor V Leiden]] homozygous
| 0.5-1
| 0.5-1
| 80
| 80
|-
|-
| Prothrombin G20210A
| [[Prothrombin G20210A]]
| 0.02
| 0.02
| 1-5
| 1-5
|-
|-
| Oral contraceptive (OCP)
| [[Oral contraceptive]] (OCP)
| 0.03
| 0.03
| 4
| 4
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| style="font-style: italic;" | 9.7
| style="font-style: italic;" | 9.7
|-
|-
| Pregnancy
| [[Pregnancy]]
|  
|  
| 7
| 7
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| style="font-style: italic;" | 35
| style="font-style: italic;" | 35
|-
|-
| Cancer
| [[Cancer]]
|  
|  
| 5
| 5
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==Prognosis==
==Prognosis==
The prognosis depends on the underlying thrombophilia as each form has a different associated thrombotic risk. Patients who develop multiple or atyplical clots, arterial thrombosis, or life-threatening thrombosis have worse prognosis.
The prognosis depends on the underlying thrombophilia as each form has a different associated thrombotic risk. Patients who develop multiple or atypical clots, arterial thrombosis, or life-threatening thrombosis have worse prognosis.


Thrombophilias generally associated with worse prognosis include:
Thrombophilias generally associated with worse prognosis include:
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[[Category:Hematology]]
[[Category:Hematology]]
[[Category:FinalQCRequired]]


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Revision as of 20:32, 28 July 2016

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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]

Overview

The annual thrombotic risks are variable and depend on the underlying thrombophilia.[1]

Natural History

Complications

The risk of future thrombosis in patients with thrombophilia:

Thrombophilic state Thrombotic risk[2]
Trauma/General surgery Modest
Age > 60 Modest
Immobilization Modest
Pregnancy Modest
Hormone therapies Modest
Factor V Leiden heterozygosity Modest
Prothrombin mutation Modest
Homocysteinemia Modest
Increased factor VIII levels Modest
Increased factor IX levels Modest
Increased factor XI levels Modest
Protein C and S deficiency Intermediate
Dysfibrogenemia Intermediate
Malignancy High
APLS/Lupus anticoagulant High
Myeloproliferative disorders/hyperviscosity High
PNH High
Orthopedic surgery High
Antithrombin deficiency High
Factor V Leiden homozygosity High

The effect of concurrent hormone exposure on incident thrombosis and thrombotic risk in patients with thrombophilia:

Thrombophilic state Annual Incidence (%) Relative Risk
Normal 0.008 1
Factor V Leiden heterozygous 0.06 3-10
Factor V Leiden homozygous 0.5-1 80
Prothrombin G20210A 0.02 1-5
Oral contraceptive (OCP) 0.03 4
OCP and factor V leiden heterozygous 0.3 35
OCP and factor V leiden homozygous 100
OCP and prothrombin G20210A 16
OCP and protein C/S, or antithrombin III deficiency 9.7
Pregnancy 7
Pregnancy and factor V leiden heterozygous 35
Cancer 5
History of venous thrombosis 50

Data were extracted from multiple sources.[1][2][7]

Prognosis

The prognosis depends on the underlying thrombophilia as each form has a different associated thrombotic risk. Patients who develop multiple or atypical clots, arterial thrombosis, or life-threatening thrombosis have worse prognosis.

Thrombophilias generally associated with worse prognosis include:

Certain thrombophilic conditions are high risk and require consideration for lifelong anticoagulation. In these cases, expert consultation is recommended.

Possible indications for lifelong/prophylactic anticoagulation
Antiphospholipid syndrome
Paroxysmal nocturnal hemoglobinuria
Recurrent thrombosis regardless of underlying thrombophilia
History of life-threatening thrombosis or atypical locations
Malignancy with history of thrombosis

References

  1. ↑ 1.0 1.1 Bauer KA (2001). "The thrombophilias: well-defined risk factors with uncertain therapeutic implications". Ann Intern Med. 135 (5): 367–73. PMID 11529700.
  2. ↑ 2.0 2.1 2.2 Bates SM, Ginsberg JS (2004). "Clinical practice. Treatment of deep-vein thrombosis". N Engl J Med. 351 (3): 268–77. doi:10.1056/NEJMcp031676. PMID 15254285.
  3. ↑ Linkins LA, Choi PT, Douketis JD (2003). "Clinical impact of bleeding in patients taking oral anticoagulant therapy for venous thromboembolism: a meta-analysis". Ann Intern Med. 139 (11): 893–900. PMID 14644891.
  4. ↑ 4.0 4.1 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
  5. ↑ Baglin T, Luddington R, Brown K, Baglin C (2003). "Incidence of recurrent venous thromboembolism in relation to clinical and thrombophilic risk factors: prospective cohort study". Lancet. 362 (9383): 523–6. doi:10.1016/S0140-6736(03)14111-6. PMID 12932383.
  6. ↑ De Stefano V, Simioni P, Rossi E, Tormene D, Za T, Pagnan A; et al. (2006). "The risk of recurrent venous thromboembolism in patients with inherited deficiency of natural anticoagulants antithrombin, protein C and protein S." Haematologica. 91 (5): 695–8. PMID 16670075.
  7. ↑ 7.0 7.1 Dalen JE (2008). "Should patients with venous thromboembolism be screened for thrombophilia?". Am J Med. 121 (6): 458–63. doi:10.1016/j.amjmed.2007.10.042. PMID 18501222.

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