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>Journals >Revista de Hematología >Year 2016, Issue 2


Stanciakova L, Skerenova M, Holly P, Dobrotova M, Ivankova J, Stasko J, Kubisz P
Genetic origin of the sticky platelet syndrome
Rev Hematol Mex 2016; 17 (2)

Language: Inglés
References: 21
Page: 139-143
PDF: 384.13 Kb.


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ABSTRACT

The sticky platelet syndrome (SPS) is a prothrombotic platelet disorder, associated with increased platelet aggregability with both adenosine diphosphate (ADP) and epinephrine (EPI). Type I of the disorder is the most common phenotype in Mexican mestizos and SPS is even reported to be the second most common hereditary thrombophilic state in this particular population. It accounts for 48% of all thrombophilic disorders diagnosed in patients with unprovoked thromboembolic events. SPS is detected in patients with arterial and venous thrombotic episodes, and these can even be present concomitantly in one person or his/her relatives. The syndrome contributes more often to arterial than to venous thrombosis (21% of unexplained arterial thrombotic events vs 13% of otherwise unexplained venous thromboembolic episodes). SPS is also the most frequent thrombophilia contributing to arterial thrombotic events and possibly the leading cause of thrombosis in the atypical parts of the circulation. Several families with SPS have been described; the affected members of one family may not express the same SPS type and there are even the cases of the negativity of their family history. Various mutations of one or more genes contribute to similar SPS phenotype. Additionally, platelets of the patients with atherosclerosis, autoimmune and renal diseases showed hyperaggregability after the addition of EPI or other agonists, pointing to the possible acquired forms of SPS. Moreover, the diagnosis of SPS is based on clinical manifestation and laboratory parameters, not on the results of genetic analysis. Therefore, currently we cannot state that SPS is inherited exactly in autosomal dominant trait, as it was originally proposed.


Key words: platelet aggregation, membrane glycoprotein, sticky platelet syndrome, single nucleotide polymorphism, mutation.


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