tailieunhanh - Chapter 110. Coagulation Disorders (Part 1)

Harrison's Internal Medicine Chapter 110. Coagulation Disorders Coagulation Disorders: Introduction Deficiencies of coagulation factors have been recognized for centuries. Patients with genetic deficiencies of plasma coagulation factors exhibit lifelong recurrent bleeding episodes into joints, muscles, and closed spaces, either spontaneously or following an injury. The most common inherited factor deficiencies are the hemophilias, X-linked diseases caused by deficiency of Factor (F) VIII (hemophilia A) or Factor IX (FIX, hemophilia B). Rare congenital bleeding disorders due to deficiencies of other factors, including FII (prothrombin), FV, FVII, FX, FXI, FXIII, and fibrinogen are usually inherited in an autosomal recessive manner (Table 110-1) | Chapter 110. Coagulation Disorders Part 1 Harrison s Internal Medicine Chapter 110. Coagulation Disorders Coagulation Disorders Introduction Deficiencies of coagulation factors have been recognized for centuries. Patients with genetic deficiencies of plasma coagulation factors exhibit lifelong recurrent bleeding episodes into joints muscles and closed spaces either spontaneously or following an injury. The most common inherited factor deficiencies are the hemophilias X-linked diseases caused by deficiency of Factor F VIII hemophilia A or Factor IX FIX hemophilia B . Rare congenital bleeding disorders due to deficiencies of other factors including FII prothrombin FV FVII FX FXI FXIII and fibrinogen are usually inherited in an autosomal recessive manner Table 110-1 . Advances in characterization of the molecular bases of clotting factor deficiencies have contributed to a better understanding of the disease phenotypes and may allow more targeted therapeutic approaches through the development of small molecules recombinant proteins or cell and gene-based therapies. Table 110-1 Genetic and Laboratory Characteristics of Inherited Coagulation Disorders Laborator y Abnormality Clo tting Factor Deficienc y In heritance Pr evalence in General Populati on PTT T T M inimum Hemosta tic Levels Trea tment P lasma Half- Life Fib rinogen AR 1 in 1 000 000 10 0 mg dL Cryo precipitate 2 -4 d Pro AR 1 20 FFP 3 thrombin in 2 000 000 -30 PCCs -4 d Fac tor V AR 1 in 1 000 000 - - 15 -20 FFP 3 6 h Fac tor VII AR 1 in 500 000 15 -20 FFP PCCs 4 -6 h Fac tor VIII X- linked 1 in 5 000 30 FVII I concentrate s 8 -12 h Fac tor IX X- linked 1 in 30 000 30 FIX concentrate s 1 8-24 h Fac AR 1 15 FFP