Vaskulárna medicína 1/2011

Hereditary thrombophilic platelet defects

Thrombocytopathy generally means decreased function of platelets often associated with their decreased count. Defects leading to platelet hyperfunction and increased tendency to thrombosis are also known. They appear in many pathological conditions and situations such as hypertension, smoking, diabetes mellitus, hyperlipidaemia or chronic inflammatory and oncological diseases. Platelet activation is usually secondary in these states, due to vessel wall impairment, rarely is primary caused by substances released from inflammatory and tumour cells. Sticky platelet syndrome is the most common hereditary thrombophilic platelet defect; Wien-Penzing defect and polymorphisms of platelet glycoprotein receptors GPIIIa and GPIa are rare.

Keywords: thrombocytopathy, platelet hyperfunction, sticky platelet syndrome, Wien-Penzing defect, polymorphisms of GPIIIa and GPIa.