A 28 year old man presented with a persistent epistaxis to the emergency department.
The coagulation profile was as follows:
Test |
Value |
Normal Range |
INR |
1.2 |
0.8 – 1.2 |
APTT |
50 seconds |
25 – 39 |
Platelets |
250 X 109 / L |
150 – 350 |
Bleeding time* |
16 minutes |
2 – 8 |
Fibrinogen |
3 g/L |
1.5 – 4 |
FDPs |
< 10 mg/L |
0 – 10 |
Thrombin clotting time |
15 seconds |
12 – 17 |
a) What is the most likely diagnosis?
b) What would you confirm your diagnosis
a) What is the most likely diagnosis?
Von Willebrand’s disease
b) What would you confirm your diagnosis
• History – easy bruising, mucosal bleeding
• Family history
• Plasma vWF levels
• Factor VIII levels /activity
There is only one situation in which one might have essentially normal APTT, but an elevated bleeding time. The APTT test would be slightly elevated because Factor 8 relies on vWF activity, and in the absence of vWF one is effectively Factor 8-deficient. The PT would be normal.
Pathophysiology
There are three main types of VWD:
History and examination
Blood biochemistry and coags
Management
Budde, Ulrich, et al. "Laboratory diagnosis of congenital von Willebrand disease."Seminars in thrombosis and hemostasis. Vol. 28. No. 02. Copyright© 2002 by Thieme Medical Publishers, Inc., 333 Seventh Avenue, New York, NY 10001, USA. Tel.:+ 1 (212) 584-4662, 2002.
Kamal, Arif H., Ayalew Tefferi, and Rajiv K. Pruthi. "How to interpret and pursue an abnormal prothrombin time, activated partial thromboplastin time, and bleeding time in adults." Mayo Clinic Proceedings. Vol. 82. No. 7. Elsevier, 2007.