Coagulation Disorders: Inherited and Acquired

Questions and Answers

What is the mode of inheritance of Factor XII deficiency?

Autosomal recessive

What is the typical clinical presentation of patients with Factor XI deficiency?

Mild bleeding tendencies that respond to therapy

What is the laboratory test that is characteristic of Prekallikrein deficiency?

Prolonged APTT

What is the ethnic group in which Factor XI deficiency is more common?

Ashkenazi Jews Signup and view all the answers

What is the treatment for Factor XI deficiency?

Fresh whole blood Signup and view all the answers

What percentage of congenital bleeding disorders is accounted for by Hemophilia A?

85% Signup and view all the answers

What is the effect of DDAVP on plasma concentration of VIII:C?

Increases it three to six folds Signup and view all the answers

What is the APTT result in Hemophilia A?

Prolonged Signup and view all the answers

What is the mode of transmission of Hemophilia A?

X-linked recessive Signup and view all the answers

What is the approximate incidence of Hemophilia A in the population?

5 per 100,000 Signup and view all the answers

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)