Sleep disordered breathing and its relation to stroke and pulmonary hypertension in children with sickle cell disease: a single-center cross-sectional study

Tantawy, Azza Abdel Gawad; Elsherif, Nayera H K; Makkeyah, Sara; El‐Deen, N. Salah; Farghal, Noura Bahaa El-Din; Soliman, Nanies; Ebeid, Fatma Soliman Elsayed

doi:10.1007/s00277-023-05099-4

Cited by 7 publications

(5 citation statements)

References 57 publications

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“…Obstructive sleep apnea is a frequent complication of SCD in children that is regularly underdiagnosed and has been associated with stroke and PH [37]. Trials in adults include a small number of patients but indicate a high incidence of sleep-disordered breathing [38].…”

Section: Pathophysiologymentioning

confidence: 99%

Pulmonary Hypertension in Sickle Cell Disease: Novel Findings of Gene Polymorphisms Related to Pathophysiology

Chatzidavid,

Flevari,

Tombrou

et al. 2024

Preprint

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Pulmonary hypertension (PH) is a progressive and potentially fatal complication of sickle cell disease (SCD) affecting 6-10% of adult SCD patients. Various mechanisms and theories have been evaluated to explain the pathophysiology of the disease. However, questions remain, particularly regarding the clinical heterogeneity of the disease in terms of symptoms, complications, and survival. Beyond the classical mechanisms that have been thoroughly investigated and include hemolysis, nitric oxide availability, endothelial disorders, thrombosis, and left heart failure, attention is focused nowadays on the potential role of the genes involved in such processes. Potential candidate genes are investigated through next-generation sequencing, with the TGF-β pathway being the initial target. This field of research may also provide novel targets for pharmacologic agents in the future as is already the case with idiopathic PH. The collection and processing of data and samples from multiple centers can yield safe results that will allow a better understanding of SCD-related PH as a part of the disease’s clinical spectrum. The following review attempts to capture the most recent findings of studies on gene polymorphisms that have been associated with PH in SCD patients.

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Section: Pathophysiologymentioning

confidence: 99%

Pulmonary Hypertension in Sickle Cell Disease: Novel Findings of Gene Polymorphisms Related to Pathophysiology

Chatzidavid,

Flevari,

Tombrou

et al. 2024

Preprint

View full text Add to dashboard Cite

show abstract

“…Obstructive sleep apnea is a frequent complication of SCD in children that is regularly underdiagnosed and has been associated with stroke and PH [37]. Existing trials in adults include a small number of patients but indicate a high incidence of sleep-disordered breathing [38].…”

Section: Pathophysiologymentioning

confidence: 99%

Pulmonary Hypertension in Sickle Cell Disease: Novel Findings of Gene Polymorphisms Related to Pathophysiology

Chatzidavid,

Flevari,

Tombrou

et al. 2024

IJMS

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Pulmonary hypertension (PH) is a progressive and potentially fatal complication of sickle cell disease (SCD), affecting 6–10% of adult SCD patients. Various mechanisms and theories have been evaluated to explain the pathophysiology of this disease. However, questions remain, particularly regarding the clinical heterogeneity of the disease in terms of symptoms, complications, and survival. Beyond the classical mechanisms that have been thoroughly investigated and include hemolysis, nitric oxide availability, endothelial disorders, thrombosis, and left heart failure, attention is currently focused on the potential role of genes involved in such processes. Potential candidate genes are investigated through next-generation sequencing, with the transforming growth factor-beta (TGF-β) pathway being the initial target. This field of research may also provide novel targets for pharmacologic agents in the future, as is already the case with idiopathic PH. The collection and processing of data and samples from multiple centers can yield reliable results that will allow a better understanding of SCD-related PH as a part of the disease’s clinical spectrum. This review attempts to capture the most recent findings of studies on gene polymorphisms that have been associated with PH in SCD patients.

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“…It is also important to evaluate children for other treatable comorbidities like sleep disordered breathing, which is likely underdiagnosed and may be a risk factor for stroke. 10 , 11 …”

Section: Primary Stroke Preventionmentioning

confidence: 99%

“… 9 Other factors like sleep disordered breathing may contribute to intermittent erythrocyte sickling and tissue hypoxia. 10 , 11 …”

Section: Introductionmentioning

confidence: 99%

“…9 Other factors like sleep disordered breathing may contribute to intermittent erythrocyte sickling and tissue hypoxia. 10,11 Ischemia-reperfusion injury and hemolysis contribute to an inflammatory milieu 12,13 and endothelial activation. 14 Hypercoagulability results from complex interactions between the coagulation system and the endothelium, including von Willebrand factor release, nitric oxide depletion, upregulation of vascular adhesion molecules like P-selectin, 15 interactions with microparticles, and alterations in the activity of intrinsic anticoagulants like protein C and protein S. [16][17][18][19] Chronic vasculitis and hypercoagulability in the carotid, vertebral, and cerebral arteries lead to acute infarctive and ischemic stroke, as well as chronic complications like carotid stenosis and moyamoya syndrome.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Managing the Cerebrovascular Complications of Sickle Cell Disease: Current Perspectives

Light¹,

Boucher²,

Baskin‐Miller³

et al. 2023

JBM

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The importance of protecting brain function for people with sickle cell disease (SCD) cannot be overstated. SCD is associated with multiple cerebrovascular complications that threaten neurocognitive function and life. Without screening and preventive management, 11% of children at 24% of adults with SCD have ischemic or hemorrhagic strokes. Stroke screening in children with SCD is well-established using transcranial Doppler ultrasound (TCD). TCD velocities above 200 cm/s significantly increase the risk of stroke, which can be prevented using chronic red blood cell (RBC) transfusion. RBC transfusion is also the cornerstone of acute stroke management and secondary stroke prevention. Chronic transfusion requires long-term management of complications like iron overload. Hydroxyurea can replace chronic transfusions for primary stroke prevention in a select group of patients or in populations where chronic transfusions are not feasible. Silent cerebral infarction (SCI) is even more common than stroke, affecting 39% of children and more than 50% of adults with SCD; management of SCI is individualized and includes careful neurocognitive evaluation. Hematopoietic stem cell transplant prevents cerebrovascular complications, despite the short- and long-term risks. Newer disease-modifying agents like voxelotor and crizanlizumab, as well as gene therapy, may treat cerebrovascular complications, but these approaches are investigational.

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Sleep disordered breathing and its relation to stroke and pulmonary hypertension in children with sickle cell disease: a single-center cross-sectional study

Cited by 7 publications

References 57 publications

Pulmonary Hypertension in Sickle Cell Disease: Novel Findings of Gene Polymorphisms Related to Pathophysiology

Pulmonary Hypertension in Sickle Cell Disease: Novel Findings of Gene Polymorphisms Related to Pathophysiology

Pulmonary Hypertension in Sickle Cell Disease: Novel Findings of Gene Polymorphisms Related to Pathophysiology

Managing the Cerebrovascular Complications of Sickle Cell Disease: Current Perspectives

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