Bleeding phenotype and diagnostic characterization of patients with congenital platelet defects.

Phenotypic characterization of congenital platelet defects (CPDs) could help physicians recognize CPD subtypes and can inform on prognostic implications. We report the analyses of the bleeding phenotype and diagnostic characteristics of a large cohort of adult patients with a confirmed CPD. A total of 96 patients were analyzed and they were classified as Glanzmann thrombasthenia, Bernard-Soulier syndrome, dense granule deficiency, defects in the ADP or thromboxane A2 (TxA2) pathway, isolated thrombocytopenia or complex abnormalities.

Congenital platelet disorders and health status-related quality of life.

Background: Patients with congenital blood platelet disorders (CPDs) demonstrate a predominantly mucocutaneous bleeding tendency. Repeated bleeds throughout life can have a significant impact on health status-related quality of life (HR-QoL), but few studies have investigated HR-QoL in patients with CPDs.

Objectives: To determine HR-QoL in patients with suspected or confirmed CPDs as compared with the general Dutch population and to assess the association between bleeding phenotype and HR-QoL.

Flow cytometric mepacrine fluorescence can be used for the exclusion of platelet dense granule deficiency.

Background: δ-storage pool disease (δ-SPD) is a bleeding disorder characterized by a reduced number of platelet-dense granules. The diagnosis of δ-SPD depends on the measurement of platelet ADP content, but this test is time consuming and requires a relatively large blood volume. Flow cytometric analysis of platelet mepacrine uptake is a potential alternative, but this approach lacks validation, which precludes its use in a diagnostic setting.

Reliability and Feasibility of the Self-Administered ISTH-Bleeding Assessment Tool.

 Standardized bleeding assessment tools (BATs), such as the International Society for Thrombosis and Hemostasis (ISTH)-BAT, are screening instruments used during the diagnostic workup of suspected bleeding disorders. A self-administered ISTH-BAT (self-BAT) would enhance screening and save time during an outpatient clinic visit.  This study was aimed to investigate the reliability and feasibility of the self-BAT.

[Rare metastatic infection sites in S. aureus bacteraemia].

Background: Bacteraemia caused by Staphylococcus aureus may result in metastatic infection sites. The most common types of metastatic infection are endocarditis and spondylodiscitis. Less common sites of infection can cause atypical symptoms and be a challenge to diagnose.