Primary Thrombophilia XVI: A Look at the Genotype of the Sticky Platelet Syndrome Phenotype

Abstract

The sticky platelet syndrome (SPS) was described by Mammen in 1983. Since then, scientists in several countries have identified the condition and published cases or series of patients, thus enabling the description of the prevalence of the inherited condition, its salient clinical features, and the treatment of the disease. The diagnosis of the SPS phenotype requires fresh blood samples and special equipment which is not available in all coagulation laboratories. In the era of molecular biology, up to now it has not been possible to define a clear association of the SPS phenotype with a specific molecular marker. Some molecular changes which have been described in platelet proteins in some persons with the phenotype of the SPS are here discussed. Nowadays, the SPS phenotype may be considered as a risk factor for thrombosis and most cases of the SPS developing vaso-occlussive episodes are the result of its coexistence with other thrombosis-prone conditions, some of the inherited and some of them acquired, thus leading to the concept of multifactorial thrombophilia. Ignoring all these evidence-based concepts is inappropriate, same as stating that the SPS is a nonentity simply because not all laboratories are endowed with adequate equipment to support the diagnosis.

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“…As a result of our interest in the SPS and with the assistance of various collaborators and of the previously mentioned giant clotters, we have now pieced several features of the SPS which can be summarized as follows [5][6][7][8][9][10][11][12][13][14][15][16][17][18][19] :…”

Professor Peter Kubisz (1942–2022)—Un hommage à trois étincelles

“…As a result of our interest in the SPS and with the assistance of various collaborators and of the previously mentioned giant clotters, we have now pieced several features of the SPS which can be summarized as follows 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 :…”

Primary Thrombophilia XVII: A Narrative Review of Sticky Platelet Syndrome in México

“…Even though the exact pathophysiology of SPS is not fully understood to date, a detailed review of known platelet function and molecular and genetic features associated with this syndrome was recently published by García-Villaseñor and colleagues. Some studies have been performed to assess the implications of microRNAs in platelet function, as well as to establish the relationship of polymorphisms with SPS complications, most of which are related to chronic degenerative diseases and infertility [ 27 ].…”