Genetic, laboratory and clinical risk factors in the development of overt ischemic stroke in children with sickle cell disease
Cerebrovascular disease, particularly stroke, is one of the most severe clinical complications associated with sickle cell disease and is a significant cause of morbidity in both children and adults. Over the past two decades, considerable advances have been made in the understanding of its natural...
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| Format: | Article |
| Language: | English |
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Elsevier
2018-04-01
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| Series: | Hematology, Transfusion and Cell Therapy |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1516848417301317 |
| _version_ | 1818844666191151104 |
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| author | André Rolim Belisário Célia Maria Silva Cibele Velloso-Rodrigues Marcos Borato Viana |
| author_facet | André Rolim Belisário Célia Maria Silva Cibele Velloso-Rodrigues Marcos Borato Viana |
| author_sort | André Rolim Belisário |
| collection | DOAJ |
| description | Cerebrovascular disease, particularly stroke, is one of the most severe clinical complications associated with sickle cell disease and is a significant cause of morbidity in both children and adults. Over the past two decades, considerable advances have been made in the understanding of its natural history and enabled early identification and treatment of children at the highest risk. Transcranial Doppler screening and regular blood transfusions have markedly reduced the risk of stroke in children. However, transcranial Doppler has a limited positive predictive value and the pathophysiology of cerebrovascular disease is not completely understood. In this review, we will focus on the current state of knowledge about risk factors associated with ischemic stroke in patients with sickle cell disease. A search of PubMed was performed to identify studies. Full texts of the included articles were reviewed and data were summarized in a table. The coinheritance of alpha-thalassemia plays a protective role against ischemic stroke. The influence of other genetic risk factors is controversial, still preliminary, and requires confirmatory studies. Recent advances have established the reticulocyte count as the most important laboratory risk factor. Clinical features associated with acute hypoxemia as well as silent infarcts seem to influence the development of strokes in children. However, transcranial Doppler remains the only available clinical prognostic tool to have been validated. If our understanding of the many risk factors associated with stroke advances further, it may be possible to develop useful tools to detect patients at the highest risk early, improving the selection of children requiring intensification therapy. Keywords: Sickle cell disease, Cerebrovascular disease, Stroke, Risk factors, Transcranial Doppler ultrasonography |
| first_indexed | 2024-12-19T05:17:23Z |
| format | Article |
| id | doaj.art-bd3f7c3ddd394c37893068bf6bd2624e |
| institution | Directory Open Access Journal |
| issn | 2531-1379 |
| language | English |
| last_indexed | 2024-12-19T05:17:23Z |
| publishDate | 2018-04-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Hematology, Transfusion and Cell Therapy |
| spelling | doaj.art-bd3f7c3ddd394c37893068bf6bd2624e2022-12-21T20:34:38ZengElsevierHematology, Transfusion and Cell Therapy2531-13792018-04-01402166181Genetic, laboratory and clinical risk factors in the development of overt ischemic stroke in children with sickle cell diseaseAndré Rolim Belisário0Célia Maria Silva1Cibele Velloso-Rodrigues2Marcos Borato Viana3Centro de Tecidos Biológicos de Minas Gerais, Fundação Hemominas, Lagoa Santa, MG, Brazil; Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, MG, Brazil; Corresponding author at: Centro de Tecidos Biológicos de Minas Gerais, Fundação Hemominas, Rua das Goiabeiras, 779, 33400-000 Lagoa Santa, MG, Brazil.Fundação Hemominas, Belo Horizonte, MG, BrazilUniversidade Federal de Juiz de Fora (UFJF), Juiz de Fora, MG, BrazilUniversidade Federal de Minas Gerais (UFMG), Belo Horizonte, MG, BrazilCerebrovascular disease, particularly stroke, is one of the most severe clinical complications associated with sickle cell disease and is a significant cause of morbidity in both children and adults. Over the past two decades, considerable advances have been made in the understanding of its natural history and enabled early identification and treatment of children at the highest risk. Transcranial Doppler screening and regular blood transfusions have markedly reduced the risk of stroke in children. However, transcranial Doppler has a limited positive predictive value and the pathophysiology of cerebrovascular disease is not completely understood. In this review, we will focus on the current state of knowledge about risk factors associated with ischemic stroke in patients with sickle cell disease. A search of PubMed was performed to identify studies. Full texts of the included articles were reviewed and data were summarized in a table. The coinheritance of alpha-thalassemia plays a protective role against ischemic stroke. The influence of other genetic risk factors is controversial, still preliminary, and requires confirmatory studies. Recent advances have established the reticulocyte count as the most important laboratory risk factor. Clinical features associated with acute hypoxemia as well as silent infarcts seem to influence the development of strokes in children. However, transcranial Doppler remains the only available clinical prognostic tool to have been validated. If our understanding of the many risk factors associated with stroke advances further, it may be possible to develop useful tools to detect patients at the highest risk early, improving the selection of children requiring intensification therapy. Keywords: Sickle cell disease, Cerebrovascular disease, Stroke, Risk factors, Transcranial Doppler ultrasonographyhttp://www.sciencedirect.com/science/article/pii/S1516848417301317 |
| spellingShingle | André Rolim Belisário Célia Maria Silva Cibele Velloso-Rodrigues Marcos Borato Viana Genetic, laboratory and clinical risk factors in the development of overt ischemic stroke in children with sickle cell disease Hematology, Transfusion and Cell Therapy |
| title | Genetic, laboratory and clinical risk factors in the development of overt ischemic stroke in children with sickle cell disease |
| title_full | Genetic, laboratory and clinical risk factors in the development of overt ischemic stroke in children with sickle cell disease |
| title_fullStr | Genetic, laboratory and clinical risk factors in the development of overt ischemic stroke in children with sickle cell disease |
| title_full_unstemmed | Genetic, laboratory and clinical risk factors in the development of overt ischemic stroke in children with sickle cell disease |
| title_short | Genetic, laboratory and clinical risk factors in the development of overt ischemic stroke in children with sickle cell disease |
| title_sort | genetic laboratory and clinical risk factors in the development of overt ischemic stroke in children with sickle cell disease |
| url | http://www.sciencedirect.com/science/article/pii/S1516848417301317 |
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