Coagulation Disorders: Inherited and Acquired

Study Notes

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)

Description

This quiz covers coagulation disorders, including inherited and acquired disorders, and their effects on the coagulation pathway. Topics include coagulopathies, intrinsic pathway disorders, and factor XII deficiency.