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Chapter 81: Inherited Deficiencies of Coagulation Factors II, V, V + VIII, VII, X, XI, and XIII

INTRODUCTION

  • Inherited deficiencies of coagulation factors other than factor VIII (hemophilia A) and factor IX (hemophilia B) are rare bleeding disorders that occur in most populations.

  • Patients are usually homozygotes or compound heterozygotes.

  • Factor XI and factor VII deficiency occur relatively frequently, and other deficiencies are relatively rare (Table 81–1).

  • The severity of the bleeding disorder usually relates to the severity of the factor deficiency.

  • All may be caused by decreased synthesis of a specific coagulation factor, by synthesis of a dysfunctional form of the coagulation factor, or both.

  • Inherited deficiency of a coagulation factor does not protect patients from thrombosis.

TABLE 81–1RELATIVE PREVALENCE OF RARE BLEEDING DISORDERS*
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TABLE 81–1 RELATIVE PREVALENCE OF RARE BLEEDING DISORDERS*
Deficiency WFH Survey (2002)† Six National Registries (2007)† UK Data (Oct. 2008)‡ Survey of 64 Centers (Aug. 2008)†
N % N % N % N %
Factor XI 2446 35.3 1947 39.4 1762 59.5 770 23.5
Factor VII 1689 24.4 1050 21.3 580 19.6 927 28.3
Afibrinogenemia 644 9.3 496 10.0 203 6.9 241 7.4
Factor X 597 8.6 446 9.0 190 6.4 339 10.4
Factor V 769 11.1 415 8.4 129 4.4 233 7.1
Factor XIII 434 6.3 282 5.7 60 2.0 211 6.5
Factor V/Factor VIII 188 2.7 203 4.1 25 0.8 495 15.1
Factor II 167 2.4 101 2.0 13 0.4 55 1.7
Total 6934 100 4940 100 2962 100 3271 100

*Patients with partial deficiency were included.

†Data courtesy of Professor Flora Peyvandi, Milan, Italy.

‡Data courtesy of Professor Paula Bolton-Maggs, Manchester, UK.

Source: Williams Hematology, 8th ed, Chap. 125, Table 125–1.

PROTHROMBIN (FACTOR II) DEFICIENCY

Pathogenesis

  • Hypoprothrombinemia or dysprothrombinemia may be involved.

  • Both are inherited as autosomal recessive disorders.

  • Both interfere with hemostasis by impairing thrombin generation.

Clinical Features

  • The disorders are characterized by mucocutaneous and soft-tissue bleeding, usually in proportion to the severity of the functional prothrombin deficiency.

  • Bleeding may be spontaneous if prothrombin levels are less than 1%. Hemarthroses may occur.

  • Individuals with higher prothrombin levels have a variable bleeding tendency, and some may be asymptomatic.

Laboratory Features

  • The activated partial thromboplastin time (aPTT) and prothrombin time (PT) are prolonged. The thrombin time (TT) is normal.

  • Diagnosis is established by demonstrating reduced levels of functional prothrombin.

  • Both functional and antigen assays are required to identify dysprothrombinemia. Immunoelectrophoretic studies may demonstrate some forms of dysprothrombinemia.

Differential Diagnosis

  • Differential diagnosis includes inherited factor V or factor X deficiency, acquired deficiency of the vitamin K–dependent factors, or lupus anticoagulant.

Treatment

  • Prothrombin deficiency may be corrected with intravenous prothrombin complex concentrates, but with risk ...

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