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Ahmad Fadi Maatouk, Jennifer Brockington, Vinay Gudena
Am J Case Rep 2011; 12:23-26
Background: Inherited platelet storage pool defects (SPD) are rarely diagnosed and the true incidence of these diseases is still unknown. The underlying pathogenetic mechanisms for these diseases are indeterminate and there is a lack of the primary care physicians’ experience to deal with these types of patients and diseases. This report presents a referred patient with a rare diagnosis of Dense or δ-granule Platelet storage Pool deficiency for evaluation, prophylaxis and management of possible peri-operative bleeding.
Case Report: A 26-year-old Caucasian female was referred for pre-operative evaluation of hematological status in preparation for surgery. Her medical history included post partum bleeding after first delivery. The family history was significant for a mother who suffered from postpartum bleeding.
Initial hematology work-up and coagulation profile were normal. A platelet function assay was performed due to lack of clear explanation of her personal and family history and came back abnormal. That leads to performing Electron microscopy and she was found to have a significant deficiency of Delta-granule storage pool.
Management of this patient included careful monitoring for postoperative bleeding complications, prophylactic IV desmopressin, as well as having platelets readily available during surgery. Cryoprecipitate and recombinant factor VIIa were recommended for refractory peri-operative bleeding.
Conclusions: δ-GSPD is a variable, yet manageable disease. A detailed medical and family history is a key to determining the cause of bleeding. Specialized tests including platelet function assays and EM often provide the definitive diagnosis of δ-GSPD. Misdiagnosis can lead to excessive morbidity and mortality in these patients.