What is Bernard-Soulier Syndrome?

Bernard-Soulier Syndrome
Platelets morphology in a Bernard-Soulier syndrome. Light microscopy of May Grünwald-Giemsa stained smears of the BSS#1 affected dog at 100 X (A); 400 X (B) and 1000 X (C,D) magnification. Black arrowheads indicate "giant platelets" in comparison to normal platelets (grey arrowhead). https://doi.org/10.1371/journal.pone.0220625.g003. A large deletion in the GP9 gene in Cocker Spaniel dogs with Bernard-Soulier syndrome. Gentilini F, Turba ME, Giancola F, Chiocchetti R. PLoS ONE (2019). Not Altered. CC.

Bernard-Soulier syndrome is a bleeding disorder associated with abnormal platelets.

What is the Pathology of Bernard-Soulier Syndrome?

The pathology of Bernard-Soulier syndrome is:

-Etiology: The cause of Bernard-Soulier syndrome is the genetic mutations in one of the Gp1b complex genes.

-Genes involved: GP1BA, GP1BB, or GP9.

-Pathogenesis: The sequence of events that lead to Bernard-Soulier syndrome is the proteins produced from GP1BA, and GP1BB.

-Morphology: The morphology associated with Bernard-Soulier syndrome shows thrombocytopenia, giant platelets, and qualitative platelet defects resulting in bleeding tendency.

How does Bernard-Soulier Syndrome Present?

Patients with Bernard-Soulier syndrome typically are either male or female present at the age range of infants. The symptoms, features, and clinical findings associated with Bernard-Soulier syndrome include easy bruising and nosebleeds.

How is Bernard-Soulier Syndrome Diagnosed?

Bernard-Soulier syndrome is diagnosed with blood and platelets tests.

How is Bernard-Soulier Syndrome Treated?

Bernard-Soulier syndrome is treated with platelet transfusion as needed.

What is the Prognosis of Bernard-Soulier Syndrome?

The prognosis of Bernard-Soulier syndrome is fair.

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Last updated on May 24, 2022