A 2 day old comes in with a cephalohematoma. A forceps delivery had been performed.
A CT is performed
What do you see on the CT?
Our patient had hemophilia with not only a cephalohematoma but subdurals along the tentorium and falx. One third of babies who are diagnosed with hemophilia have no other family members with the disorder. They often present with a bleeding heel stick or circumcision as in the case of our patient. His hemoglobin was %.5, PTT was 78. His factor VIII activity level was 11%. He was treated with factor VIII.
As you remember the Activated Partial Thromboplastin Time (PTT) measures the clotting ability of factors VIII, IX, XI, and XII. This is elevated in hemophilia A or B.
The Prothrombin Time(PT) measures the clotting ability of factors I, II, V, VII and X.
In the 2nd century AD bleeding disorders were recognized in the Talmud. It was stated that baby boys did not have to be circumcised if two of their brothers had previously died from the procedure. In 1813 John Hay published a paper in the NEJM proposing that men could pass bleeding disorders to their unaffected daughters.
Heir to the Russian throne who had hemophilia and was treated by Rasputin
Hemophila affected the royal families of England, Germany, Russia and Spain in the 19th and 20 th centuries. Queen Victoria of England was believed to have been a carrier of hemophilia B. (factor IX deficiency). Her daughter Alice married Tsar Nicholas of Russia whose only son, Alexei, had the disease.
While patients with classic hemophilia are easy to diagnose because they present with bleeding, other bleeding disorders are subtle. Mild hemophilia, mild von Willebrand’s disease, hypofibrinogenemia, mild DIC , and acquired platelet abnormalities all may cause bleeding especially with operations or dental extractions.
helpful tests for diagnosing bleeding disorders.
Acquired von Willebrand syndrome is the most common inherited bleeding disorder. This is because autoantibodies to the von Willebrand factor may occur in the setting of monoclonal gammopathies, lymphoid neoplasms and autoimmune diseases. Because the VWF multimers are so large they are subject to shear stress and become unfolded making them susceptible to cleavage by ADAMTS13. This shearing can occur in LVADs, aortic stenosis or even cardiomyopathy.
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Mohn H. Acquired von Willebrand syndrome;features and management . Am J Hematol. 2006:81:616.
Van Genderen PJ. Vink T, Michiels J, et al. Acquired von Willebrand disease caused by an autoantibody selectively inhibiting the bindings of von Willebrand factor to collagen. Blood . 1994:84:3378.
Kanakry J, Gladstone D. Maintaining hemostasis in acquired von Willebrand syndrome: a review of intravenous immunoglobulin and the importance of rituximab dose scheduling. Transfusion 2013;53:1730.