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American Academy of Pediatrics
State-of-the-Art Review Article

Rare Bleeding Disorders in Children: Identification and Primary Care Management

Suchitra S. Acharya
Pediatrics November 2013, 132 (5) 882-892; DOI: https://doi.org/10.1542/peds.2012-3662
Suchitra S. Acharya
Bleeding Disorders and Thrombosis Program, Cohen Children’s Medical Center of New York, New Hyde Park, New York; and Hofstra North Shore-Long Island Jewish School of Medicine, Hempstead, New York
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Abstract

Bleeding symptoms are common in healthy children but occasionally may indicate an underlying congenital or acquired bleeding diathesis. The rare bleeding disorders (RBDs) comprise inherited deficiencies of coagulation factors I (congenital fibrinogen deficiencies), II, V, VII, X, XI, and XIII and combined factor deficiencies, most notably of factors V and VIII and of vitamin K–dependent factors. These disorders often manifest during childhood and may present with recurrent or even serious or life-threatening bleeding episodes, particularly during the neonatal period. Accordingly, primary care and other nonhematologist pediatric providers should be familiar with the clinical presentation and initial evaluation of these rare disorders. Bleeding manifestations generally vary within the same RBD and may be indistinguishable from 1 RBD to another or from other more common bleeding disorders. Serious bleeding events such as intracranial hemorrhage may be heralded by less serious bleeding symptoms. The results of initial coagulation studies, especially prothrombin time and activated partial thromboplastin time, are often helpful in narrowing down the potential factor deficiency, with factor XIII deficiency being an exception. Consultation with a hematologist is advised to facilitate accurate diagnosis and to ensure proper management and follow-up. The approach to bleeding episodes and invasive procedures is individualized and depends on the severity, frequency, and, in the case of procedures, likelihood of bleeding. Prophylaxis may be appropriate in children with recurrent serious bleeding and specifically after life-threatening bleeding episodes. When available, specific purified plasma-derived or recombinant factor concentrates, rather than fresh frozen plasma or cryoprecipitate, are the treatment of choice.

  • blood coagulation factor deficiencies
  • blood coagulation disorders
  • hemorrhage
  • pediatrics
  • blood coagulation tests
  • Accepted July 31, 2013.
  • Copyright © 2013 by the American Academy of Pediatrics

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Pediatrics
Vol. 132, Issue 5
1 Nov 2013
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Rare Bleeding Disorders in Children: Identification and Primary Care Management
Suchitra S. Acharya
Pediatrics Nov 2013, 132 (5) 882-892; DOI: 10.1542/peds.2012-3662

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Rare Bleeding Disorders in Children: Identification and Primary Care Management
Suchitra S. Acharya
Pediatrics Nov 2013, 132 (5) 882-892; DOI: 10.1542/peds.2012-3662
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