11. Congenital Bleeding Disorders

  1. Alvin H. Schmaier MD and
  2. Hillard M. Lazarus MD, FACP
  1. Anjali A. Sharathkumar MD, MS1 and
  2. Steven W. Pipe MD2

Published Online: 22 SEP 2011

DOI: 10.1002/9781444345254.ch11

Concise Guide to Hematology

Concise Guide to Hematology

How to Cite

Sharathkumar, A. A. and Pipe, S. W. (2011) Congenital Bleeding Disorders, in Concise Guide to Hematology (eds A. H. Schmaier and H. M. Lazarus), Wiley-Blackwell, Oxford, UK. doi: 10.1002/9781444345254.ch11

Editor Information

  1. Case Western Reserve University, University Hospitals Case Medical Center, Cleveland, OH, USA

Author Information

  1. 1

    Children's Memorial Hospital, Northwestern University, Feinberg School of Medicine, Chicago, IL, USA

  2. 2

    C.S. Mott Children's Hospital, University of Michigan, Ann Arbor, MI, USA

Publication History

  1. Published Online: 22 SEP 2011
  2. Published Print: 4 NOV 2011

ISBN Information

Print ISBN: 9781405196666

Online ISBN: 9781444345254

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Keywords:

  • hemophilia A;
  • hemophilia B;
  • factor VIII;
  • factor IX;
  • von Willebrand disease;
  • von Willebrand factor;
  • rare bleeding disorders;
  • hemostatic agents

Summary

Deficiencies of coagulation factors VIII, IX, and von Willebrand factor constitute the majority of inherited bleeding disorders while deficiencies of fibrinogen, prothrombin and factors V, VII, X, XI, and XIII constitute rare bleeding disorders (RBDs). Inherited deficiencies of inhibitors of fibrinolysis are extremely rare bleeding disorders and are included under the “miscellaneous” category. The clinical spectrum of bleeding symptoms of these disorders ranges from mucocutaneous bleeding to musculoskeletal bleeding. Rarely, these disorders are asymptomatic and present only after hemostatic challenge such as surgical procedures or trauma. Availability of clotting factor concentrates and adjuvant therapies, such as desmopressin (DDAVP) and antifibrinolytics, as well as comprehensive care within specialized hemophilia treatment centers, have transformed patient outcomes and quality of life. This chapter provides an overview of the clinical presentation, diagnostic testing and principles of management for patients with inherited bleeding disorders.