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

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...

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Autores principales: García-Villaseñor, Elizabeth, Bojalil-Álvarez, Lorena, Murrieta-Álvarez, Iván, Cantero-Fortiz, Yahveth, Ruiz-Delgado, Guillermo J., Ruiz-Argüelles, Guillermo J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8674482/
https://www.ncbi.nlm.nih.gov/pubmed/34617458
http://dx.doi.org/10.1177/10760296211044212
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author García-Villaseñor, Elizabeth
Bojalil-Álvarez, Lorena
Murrieta-Álvarez, Iván
Cantero-Fortiz, Yahveth
Ruiz-Delgado, Guillermo J.
Ruiz-Argüelles, Guillermo J.
author_facet García-Villaseñor, Elizabeth
Bojalil-Álvarez, Lorena
Murrieta-Álvarez, Iván
Cantero-Fortiz, Yahveth
Ruiz-Delgado, Guillermo J.
Ruiz-Argüelles, Guillermo J.
author_sort García-Villaseñor, Elizabeth
collection PubMed
description 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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spelling pubmed-86744822021-12-17 Primary Thrombophilia XVI: A Look at the Genotype of the Sticky Platelet Syndrome Phenotype García-Villaseñor, Elizabeth Bojalil-Álvarez, Lorena Murrieta-Álvarez, Iván Cantero-Fortiz, Yahveth Ruiz-Delgado, Guillermo J. Ruiz-Argüelles, Guillermo J. Clin Appl Thromb Hemost Review 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. SAGE Publications 2021-10-07 /pmc/articles/PMC8674482/ /pubmed/34617458 http://dx.doi.org/10.1177/10760296211044212 Text en © The Author(s) 2021 https://creativecommons.org/licenses/by-nc/4.0/This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (https://creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access page (https://us.sagepub.com/en-us/nam/open-access-at-sage).
spellingShingle Review
García-Villaseñor, Elizabeth
Bojalil-Álvarez, Lorena
Murrieta-Álvarez, Iván
Cantero-Fortiz, Yahveth
Ruiz-Delgado, Guillermo J.
Ruiz-Argüelles, Guillermo J.
Primary Thrombophilia XVI: A Look at the Genotype of the Sticky Platelet Syndrome Phenotype
title Primary Thrombophilia XVI: A Look at the Genotype of the Sticky Platelet Syndrome Phenotype
title_full Primary Thrombophilia XVI: A Look at the Genotype of the Sticky Platelet Syndrome Phenotype
title_fullStr Primary Thrombophilia XVI: A Look at the Genotype of the Sticky Platelet Syndrome Phenotype
title_full_unstemmed Primary Thrombophilia XVI: A Look at the Genotype of the Sticky Platelet Syndrome Phenotype
title_short Primary Thrombophilia XVI: A Look at the Genotype of the Sticky Platelet Syndrome Phenotype
title_sort primary thrombophilia xvi: a look at the genotype of the sticky platelet syndrome phenotype
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8674482/
https://www.ncbi.nlm.nih.gov/pubmed/34617458
http://dx.doi.org/10.1177/10760296211044212
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