The inherited qualitative platelet disorders (IPFD) are important causes of bleeding, and there is considerable heterogeneity in their features. This heterogeneity poses diagnostic challenges because the specialized testing needed to evaluate platelet disorders is often restricted to tertiary referral centers, and there are no simple tests that adequately detect or sub-categorize all forms of congenital platelet disorders.
The aim of this study was to assess inherited qualitative platelet disorders in Upper Egypt. This study was carried out at the Clinical Pathology Department at Assiut University Hospitals in the period from January 2015 to December 2015.
Platelet function defects could be detected by Light Transmission Aggregometry (LTA) in the presence of normal screening tests of haemostasis after exclusion of acquired platelet function disorders in the presence of normal liver and kidney function. The diagnosis was considered as primary diagnosis of IPFD in 88 patients out of 404 patients (21.7%) presented with bleeding tendency to the Haemostasis laboratory, Clinical Pathology Department at Assiut University Hospitals. The age of IPFD patients ranged from 1 month up to 60 years, forty six (52.3%) of them were less than 10 years, female patients represented 55.7% (49/88). Positive family history for qualitative platelet disorders was present only in 5 (5.7%) patients.
The IPFDs detected in the studied patients were enzyme deficiency (cyclooxygenase or thromboxane synthetase deficiency) which was found in 39 cases out of 88 (44.3%), followed by Thrombasthenia (21/88; 23.9%). ADP receptor defect was present in 17/88(19.3%), 9 cases had Storage pool disease (10.3%), one case had Collagen receptor defect (1.1%) and one case had Bernard Soulier syndrome (1.1%).