Bernard-Soulier Syndrome

Question 1

What is Bernard-Soulier Syndrome and how does it arise?

Answer 1

• Platelet disorder leading to increased bleeding times.

- Due to mutations leading to a defect in GPIb on platelets, which is involved in binding to vWF in primary haemostasis

Question 2

What are the symptoms and their explanations?

Answer 2

• Prolonged bleeding time, nose bleeds, bleeding gums, heavy periods – inability of platelets binding fibrinogen to form a stable plug.
• Extensive bruising/purpura - loss of effective clotting forms massive haematomas and bruising.

Question 3

What are the laboratory findings?

Answer 3

• Macrothrombocytopaenia – low platelet count but giant platelet morphology
• Prolonged PT, APTT, TT

Question 4

What further tests should be carried out?

Answer 4

• PFA (platelet function) - decreased

- Failure to aggregate with risocetin, but will aggregate with ADP and collagen

Question 5

How is BSS treated?

Answer 5

• Generic pressure, cauterisation and ice packs to control the bleeding
• Thrombomimetics – increase platelet production
• Platelet transfusion – counteracts abnormal platelet function