Clinical and laboratory observation
Platelet Dysfunction and Increased Bleeding Tendency in McCune-Albright Syndrome

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We observed increased bleeding tendency and platelet function abnormalities in 3 boys with McCune-Albright syndrome (MAS). We speculate that platelet dysfunction contributed to excessive blood loss in our patients. This report of platelet dysfunction in MAS highlights the need for assessment of platelet functions in the condition.

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Methods

Platelet functions were assessed with the platelet function analyzer (PFA 100), a screening test for platelet dysfunction. The PFA 100 aims at replicating the process of primary hemostasis in vitro by exposing platelets within citrated whole blood to high shear stress within a capillary.6 The capillary is coated with collagen and platelet agonist adenosine diphosphate (ADP) or epinephrine. Formation of a hemostatic plug by the platelets results in reduction in flow rate. The time taken for

Case 1

This boy presented at the age of 4 months with multiple café-au-lait spots and bony deformities. With radiological evaluation, the presence of polyostotic fibrous dysplasia was confirmed, indicating a diagnosis of MAS. This was confirmed by the demonstration of an activating GNAS mutation (cysteine instead of arginine at position 201, R201C). He was treated with intravenous pamidronate for extensive fibrous dysplasia, management of severe bone pain, and multiple, repeated fractures.7 Other

Discussion

Increased blood loss during orthopedic surgery in MAS previously has been attributed to increased vascularity of dysplastic bone.5 Although this definitely contributes to increased blood loss in MAS, the role of other factors, such as platelet dysfunction, has not been evaluated. We speculate that the demonstration of platelet dysfunction and marked reduction in the amount of perioperative blood loss after the use of platelet transfusion suggests an important contributory role of platelet

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