A 24 Year Old Man with Previously Diagnosed Hemophilia

Summary

DOI: 10.1373/clinchem.2011.166728

A 24-year-old Middle Eastern man diagnosed with hemophilia at the age of 4 or 5 years presented to the hematology clinic for follow-up after a recent hospitalization for excessive bleeding from an accidental knife cut. The patient reported a history of prolonged bleeding after teeth extractions, an upper gastrointestinal bleed 3 years previously, and excessive bruising since childhood. He denied hemarthroses but reported chronic pain in his ankles and joints.

Student Discussion

Student Discussion Document (pdf)

Francesca Khani^1,2* and Mikhail Roshal²

¹New York Presbyterian Hospital, New York, NY; ²Weill Cornell Medical College, New York, NY.
*New York Presbyterian Hospital, 525 E. 68th St., ST10–32 New York, NY 10065. Fax 212-746-8545; E-mail: [email protected].

Case Description

A 24-year-old Middle Eastern man diagnosed with hemophilia at the age 4 or 5 years presented to the hematology clinic for follow-up after a recent hospitalization for excessive bleeding from an accidental knife cut. The patient reported a history of prolonged bleeding after teeth extractions, an upper gastrointestinal bleed 3 years previously, and excessive bruising since childhood. He denied hemarthroses but reported chronic pain in his ankles and joints. The patient reported having been treated with fresh frozen plasma (FFP)3 and factor VIII during past hospitalizations. Because of poor continuity of care, his disease had not been monitored or treated on an ongoing outpatient basis. The patient’s family history is noteworthy for consanguineous parents (first cousins) and a sister who also experienced excessive bleeding, although her diagnosis was uncertain. Initial laboratory test results included normal complete blood count, including platelets, a prolonged activated partial thromboplastin time (aPTT), and a prolonged prothrombin time (PT) (Table 1). Fibrinogen activity was normal. A 1:1 mixture of the patient’s plasma with pooled normal plasma demonstrated full correction of the PT and aPTT, a result consistent with factor deficiency.

Table 1. Patient's laboratory results (citrated plasma)

Questions to Consider

How do the coagulation studies for this patient differ from those typically seen for patients with hemophilia?
What are possible causes of simultaneous prolonged PT and prolonged aPTT?
What further coagulation studies would you recommend in evaluating this patient?

Final Publication and Comments

The final published version with discussion and comments from the experts appears in the July 2012 issue of Clinical Chemistry, approximately 3-4 weeks after the Student Discussion is posted.

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