Coagulation Disorders: Inherited and Acquired

Coagulation Disorders

• Coagulopathies can be classified into two types: inherited disorders, which affect one clotting factor, and acquired disorders, which affect several clotting factors and hemostatic pathways.

Inherited Disorders of Coagulation

Intrinsic Pathway Disorders

• Factor XII deficiency (Hageman factor deficiency) is an autosomal recessive disorder, where homozygous individuals have no factor XII, and heterozygous individuals have variable levels of factor XII.

• Clinical findings: no bleeding disorder, but laboratory tests show prolonged APTT.

• Therapy: none, as it is usually an in vitro phenomenon.

• Prekallikrein deficiency (Fletcher factor deficiency) is an autosomal recessive disorder.

• Clinical findings: no bleeding disorder.

• Laboratory tests: prolonged APTT.

• HMWK deficiency (Fitzgerald, Flaujeac, Williams factor deficiency) is an autosomal recessive disorder.

• Clinical findings: no bleeding disorder.

• Laboratory tests: mildly prolonged APTT.

• Factor XI deficiency (Hemophilia C, Rosenthal's disease) is an autosomal dominant hemophilia, commonly found in the Ashkenazi Jewish population.

• Clinical findings: mild bleeding tendencies, usually responding to therapy, and asymptomatic until trauma or surgery.

• Laboratory tests: prolonged APTT.

• Therapy: fresh whole blood or fresh plasma.

• Factor VIII:C deficiency (Hemophilia A, Classic Hemophilia) is a sex-linked or X-linked recessive disorder.

• Clinical findings: severe, moderate, or mild bleeding diathesis, depending on the level of factor VIII:C activity.

• Bleeding symptoms include bleeding into soft tissues or joints, hematomas, hemarthroses, epistaxis, hematuria, and GIT and intracranial hemorrhage.

• Laboratory tests: prolonged APTT, with varying levels of factor VIII:C in daughters of carrier females and daughters of hemophiliacs.

• Therapy: cryoprecipitate, DDAVP, porcine factor VIII:C concentrates, and prothrombin complex concentrates.

• Factor IX deficiency (Hemophilia B, Christmas disease) is an autosomal recessive disorder.

• (No specific information provided in the text)