Hereditary Thrombophilia | Williams Manual of Hematology, 8e | AccessHemOnc

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AMA Citation
Hereditary Thrombophilia. In: Lichtman MA, Kaushansky K, Kipps TJ, Prchal JT, Levi MM. Lichtman M.A., Kaushansky K, Kipps T.J., Prchal J.T., Levi M.M. Eds. Marshall A. Lichtman, et al.eds. Williams Manual of Hematology, 8e New York, NY: McGraw-Hill; . http://hemonc.mhmedical.com/content.aspx?bookid=1783&sectionid=121723918. Accessed October 21, 2019.

MLA Citation
. "Hereditary Thrombophilia." Williams Manual of Hematology, 8e Lichtman MA, Kaushansky K, Kipps TJ, Prchal JT, Levi MM. Lichtman M.A., Kaushansky K, Kipps T.J., Prchal J.T., Levi M.M. Eds. Marshall A. Lichtman, et al. New York, NY: McGraw-Hill, , http://hemonc.mhmedical.com/content.aspx?bookid=1783&sectionid=121723918.

INTRODUCTION

Risk factors for thromboembolism may be genetic and acquired (Table 89–1).
Hereditary thrombophilia is a genetically determined increased risk of thrombosis.
Up to 50 percent of patients presenting with a first deep venous thrombosis will have an abnormal laboratory test suggesting a thrombophilic defect, and patients with recurrent thromboses or with a strong family history are even more likely to have laboratory evidence of a thrombophilic state (Table 89–2).
Up to 16 percent of patients with thrombophilia have inherited more than one abnormality.
These inherited defects also interact frequently with acquired risk factors, such as inactivity, trauma, malignancy, or oral contraceptive use, to lead to clinical thrombosis.

TABLE 89–1THROMBOPHILIAS AND PREDISPOSING RISK FACTORS FOR VENOUS THROMBOEMBOLISM

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TABLE 89–1 THROMBOPHILIAS AND PREDISPOSING RISK FACTORS FOR VENOUS THROMBOEMBOLISM

Thrombophilias	Acquired Predisposing Risk Factors for Venous Thrombosis
*Common*	Increasing age
Factor V Leiden	Surgery or trauma
Prothrombin G20210A	Prolonged immobilization
Increased factor VIII level*	Obesity
Homozygous C677T polymorphism in methylenetetrahydrofolate reductase^†	Smoking
	Malignant neoplasms
*Rare*	Myeloproliferative diseases
Protein C deficiency	Superficial vein thrombosis
Protein S deficiency	Previous venous thrombosis/Varicose veins
Antithrombin deficiency	Pregnancy and puerperium
*Very rare*	Use of female hormones
Dysfibrinogenemia	Antiphospholipid antibodies/Lupus anticoagulants
Homozygous homocystinuria	Hyperhomocysteinemia
	Activated protein C resistance unrelated to factor V Leiden

*Heritability is inferred. No gene alteration has been discerned.

^†A questionable thrombophilia that can be associated with hyperhomocysteinemia in patients with deficiencies of folic acid or vitamin B₁₂.

Source: William Hematology, 8th ed, Chap. 131, Table 131–1, p. 2122.

TABLE 89–2FREQUENCY OF THROMBOPHILIAS IN HEALTHY SUBJECTS AND UNSELECTED AND SELECTED PATIENTS WITH VENOUS THROMBOSIS

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TABLE 89–2 FREQUENCY OF THROMBOPHILIAS IN HEALTHY SUBJECTS AND UNSELECTED AND SELECTED PATIENTS WITH VENOUS THROMBOSIS

	Healthy Subjects		Unselected Patients		Selected Patients
Thrombophilia	No.	Percent Affected	No.	Percent Affected	No.	Percent Affected
Factor V Leiden	16,150*	4.8	1142	18.8	162	40
	2192^†	0.05
Prothrombin G20210A	11,932*	2.7	2884	7.1	551	16
	1811^†	0.06
Protein C deficiency	15,070	0.2–0.4	2008	3.7	767	4.8
Protein S deficiency	3788	0.16–0.21	2008	2.3	649	4.3
Antithrombin deficiency	9669	0.02	2008	1.9	649	4.3

*Whites.

^†Africans and Orientals.

Adapted with permission from Seligsohn U, Lubetsky A: Genetic susceptibility to venous thrombosis. N Engl J Med Apr 19;344(16):1222-1231, 2001.

Source: William Hematology, 8th ed, Chap.131, Table 131–2, p. 2123.

HEREDITARY RESISTANCE TO ACTIVATED PROTEIN C (APC)

Etiology and Pathogenesis

APC resistance is an abnormally reduced anticoagulant response of a patient's plasma that, in more than 90 percent of cases, is caused by a genetic abnormality of factor V (substitution of glutamine for arginine at position 506), which significantly retards inactivation of factor Va by APC. The abnormal factor V is generally referred to as "factor V Leiden."

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Chapter 89: Hereditary Thrombophilia

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INTRODUCTION

HEREDITARY RESISTANCE TO ACTIVATED PROTEIN C (APC)

Etiology and Pathogenesis

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