Bernard-Soulier Syndrome (a big St. Bernard - big platelets)
- Missing the protein that binds vWF
to the platelets; therefore
clinically can look like vWD
- Mild thrombocytopenia, with large bizarre platelets
- Has normal levels of vWF, but still fails the ristocetin test (no
agglutination in this disorder)
- think of Scott, a small asian (wiscott - small plt),
vs a big St. bernard (bernard soulier - large platelets)
also see Platelet disorders,
Glanzmann Thrombasthenia
CHLA Board review 2005