Chapter 110. Coagulation Disorders (Part 1)

Harrisons Internal Medicine Chapter 110. Coagulation DisordersCoagulation Disorders: IntroductionDeficiencies 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)....
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Chapter 110. Coagulation Disorders (Part 1) Chapter 110. Coagulation Disorders (Part 1) Harrisons 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 lifelongrecurrent bleeding episodes into joints, muscles, and closed spaces, eitherspontaneously or following an injury. The most common inherited factordeficiencies are the hemophilias, X-linked diseases caused by deficiency of Factor(F) VIII (hemophilia A) or Factor IX (FIX, hemophilia B). Rare congenitalbleeding disorders due to deficiencies of other factors, including FII(prothrombin), FV, FVII, FX, FXI, FXIII, and fibrinogen are usually inherited inan autosomal recessive manner (Table 110-1). Advances in characterization of themolecular bases of clotting factor deficiencies have contributed to a betterunderstanding of the disease phenotypes and may allow more targeted therapeuticapproaches through the development of small molecules, recombinant proteins, orcell and gene-based therapies. Table 110-1 Genetic and Laboratory Characteristics of InheritedCoagulation Disorders Laborator y Abnormalitya Clo In Pr a M Trea Ptting heritance evalence PTT T T inimum tment lasmaFactor in Hemosta Half-Deficienc General tic Lifey Populati Levels on Fib AR 1 + 10 Cryo 2rinogen in 0 mg/dL precipitate –4 d 1,000,000 Pro AR 1 + 20 FFP/ 3thrombin in –30% PCCs –4 d 2,000,000 Fac AR 1 + 15 FFP 3tor V in /– /– –20% 6h 1,000,000 Fac AR 1 – 15 FFP/ 4tor VII in –20% PCCs –6 h 500,000 Fac X- 1 + 30 FVII 8tor VIII linked in 5,000 % I –12 h concentrate s Fac X- 1 + 30 FIX 1tor IX linked in 30,000 % concentrate 8–24 h s Fac AR 1 + 15 FFP/ 4tor X in /– /– –20% PCCs 0–60 h 1,000,000 Fac AR 1 + 15 FFP 4tor XI in –20% 0–70 h 1,000,000 b b Fac AR N + 6tor XII D 0h b b HK AR N + 1 D 50 h b b Pre AR N + 3kallikrein D 5h Fac AR 1 – 2– Cryo 1tor XIII in /– 5% precipitate 1–14 d 2,000,000 a Values within normal range (–) or prolonged (+). b No risk for bleeding, treatment is not indicated. Abbreviations: HK, high-molecular weight kininogen; AR, autosomalrecessive; aPTT, activated partial thromboplastin time; PT, prothrombin time; TT,thrombin time; ND, not determined; FFP, fresh frozen plasma; PCCs, prothrombincompl ...