Abstract
Objective:To determine clinical manifestations and laboratory findings in patients with BSS diagnosed through platelet aggregometry followed in a tertiary care hospital in Lahore, Pakistan.Methods:The retrospective study comprised patients who presented in Hematology and Transfusion Medicine Department of The Children Hospital & Institute of Child Health, Lahore with the relevant diagnosis from 2006 to 2013. The result of all the patients were collected on a predesigned proforma. Medical data was scrutinized to collect age, gender, clinical findings along with results of complete blood count, bleeding time and platelet aggregation studies for the diagnosis of Bernard Soulier Syndrome.Results:Among 49 patients, 26 patients were females and 23 males. The mean age of the patients was 5±2.5 years. 81% had a family history of consanguinity. The most common presenting symptom included epistaxis seen in 73.4% patients. Complete blood count demonstrated decreased platelets in 85.7% of patients ranging from 20 X 109/L to 130 X 109/L. Anemia was seen in 67.3% and 93.8% had prolonged bleeding time. Peripheral blood smears demonstrated giant platelets in all patients. The majority of patients 65.3% had mild bleeding episodes. Platelet aggregation studies showed normal aggregation with ADP, Collagen and Epinephrine in 100% of our patients whereas all showed no response of aggregation with Ristocetin.Conclusion:Our data is consistent with other reports regarding clinical presentation of BSS, but we report large number of BSS patients from our area, emphasizing significance to provide diagnostic services in Pakistan to find out exact magnitude of disease.
Highlights
Bernard Soulier Syndrome is an inherited platelet function disorder characterized by mucocutaneous bleeding, thrombocytopenia and giant platelaets with absence of platelet aggregation in response of Ristocetine.[1]
All the patients referred with suspected inheritted platelet defects based on clinical history and baseline screening tests were evaluated from January 2006 till December 2013
Bernard Soulier syndrome was diagnosed in 49 patients. 26 patients were females and 23 males with male to female ratio of 1.1:1
Summary
Bernard Soulier Syndrome is an inherited platelet function disorder characterized by mucocutaneous bleeding, thrombocytopenia and giant platelaets with absence of platelet aggregation in response of Ristocetine.[1] BSS with an autosomal-recessive inheritance was first described by Bernard and Soulier in 1948.2 The prevalence of BSS has been estimated around one in one million.[3] The defect in BSS is due to abnormalities in GPIb-V-IX complex which is required to bind von Willebrand factor in case of vascular injury exposed on subendothelial surfaces. Defective platelets adherence result in increased and prolonged bleeding. Pak J Med Sci May - June 2019 Vol 35 No 3 www.pjms.org.pk 705 insertions or deletions resulting in defect in expression of the GP Ib-IX-V complex on platelets.[4,5] BSS cases with isolated GPV gene mutation have not been reported in literature.[6]
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