Disorders of Secondary Hemostasis

Afibrinogenemia

Factor I Defect

Autosomal Recessive

Absence of Fibrinogen

Profuse bleeding after slight trauma and delayed wound healing

Presents at birth

Abnormal Platelet Aggregation and Adhesion

Treatment: Cryoprecipitate or FFP (Worry about Overload)

Dysfibrinogenemia

Factor 1 Defect

Qualitative Disorder

PT and aPTT results vary depending on severity

Fibrinogen assays may be abnormal

Patients typically asymptomatic

Hypofibrinogenemia

Factor 1 Defect

Autosomal recessive or heterozygous dominant

May be acquired

Fibrinogen levels: 20-100mg/dL

Bleeding typically mild and seen after trauma or surgery

Hyperfibrinogenemia

Factor I Defect

Fibrinogen is an acute phase reactant

Trauma, pregnancy, inflammation

High ESR

Hypoprothrombinemia

Factor II Defect

Autosomal Recessive

May have hemorrhagic symptoms

May be acquired by Vitamin K-Deficiency or Warfarin Therapy

PT and aPTT have variable prolongation

TT normal

Functional activity and antigenic concentration of prothrombin decreased

Treatment: FFP or prothrombin complex concentrate

Dysprothrombinemia

Factor II Defect

Autosomal Recessive

Structural Defect

Similar bleeding manifestations as hypprothrombinemia

Treatment: FFP or PCC

MUST DIFFERENTIATE WITH VITAMIN K, WARFARIN THERAPY, LIVER DISEASE, ANTIBODIES AGAINST PROTHROMBIN, HYPOTHROMBINEMIA AS TREATMENTS DIFFER.

Prothrombin G20210A Mutation

Single point mutation in prothrombin gene (Guanine changed to adenine)

Slightly Elevated prothrombin concentration

2nd Most Common cause of inherited thrombophilia

Predominately seen in Caucasian population

Rick of thrombosis

Only reliable test is direct analysis of genomic DNA