Presse Med
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Neurovascular complications represent one of the most detrimental manifestations of Sickle Cell Disease (SCD), affecting many patients since infancy. They include overt stroke, silent cerebral infarcts and neurocognitive disorders. In fact, neurodevelopment can be impaired in children resulting in cognitive dysfunction in adults with SCD. ⋯ Chronic transfusion regimen, hematopoietic stem cell transplantation and neurocognitive rehabilitation find indications in the context of primary and secondary prevention of neurovascular complications of SCD. However, international guidelines are often difficult to bring into the real world due to the lack of appropriate instruments and trained personnel. Many challenges have still to be faced to guarantee the best possible neurocognitive function to each child affected by SCD.
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Sickle Cell Disease (SCD) is a hereditary blood disorder characterized by the presence of abnormal hemoglobin, leading to the formation of sickle-shaped red blood cells, causing vaso-occlusion. Inflammation is a key component of the pathophysiology of SCD, contributing to the vascular complications and tissue damage. ⋯ Additionally, we will discuss the proposed mechanisms by which the complement system may contribute to tissue injury in this pathology. Finally, we will provide an overview of the available evidence concerning the effectiveness of therapeutic interventions aimed at blocking the complement system in the context of SCD and discuss the perspective of complement inhibition.
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Gene therapy is an innovative strategy that offers potential cure for patients with sickle cell disease, and no appropriate donor for transplant consideration. While we await long term data from these clinical trials, we remain optimistic that gene therapy will become a standard of care for curative treatment in sickle cell disease. ⋯ We also must acknowledge the prevalence of sickle cell disease in low-resource settings. Hopefully, as we learn more about gene therapy, we can assess ways to overcome the financial toxicity that comes with this therapy.
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Sickle cell disease (SCD) is a complex genetic disorder that has long challenged both patients and healthcare professionals. One of its chronic and debilitating complications is pulmonary hypertension (PH). SCD-associated PH is often post-capillary, secondary to left heart disease. ⋯ Initiation of such therapies must be made by an expert center after a case-by-case assessment of the benefit-risk ratio according to the phenotype and the mechanisms involved in the development of PH. Efforts are also poured into studying the interventional and medical therapies used on chronic thromboembolic PH for patients presenting with a thrombotic form. The management of those patients requires a multidisciplinary approach, with conjoint efforts from PH and SCD specialists.