Nasiri Abdulrahman, Alshammari Manal, Alkharras Reem, Madkhali Albaraa, Mohammed Saleh Mostafa F, Alzahrani Hazza
Department of Internal Medicine, College of Medicine, Imam Mohammad Ibn Saud Islamic University (IMSIU), Riyadh 11432, Saudi Arabia.
Hematology Department, King Salman Specialist Hospital, Hail 55471, Saudi Arabia.
Clin Pract. 2025 Aug 27;15(9):156. doi: 10.3390/clinpract15090156.
Sickle cell disease (SCD) is a hereditary hemoglobin disorder characterized by chronic hemolysis and recurrent vaso-occlusive crises, leading to a wide spectrum of complications. While common SCD manifestations have well-established management protocols, rare and atypical complications pose significant diagnostic and therapeutic challenges. A critical barrier is diagnostic overshadowing, where common SCD symptoms (pain, fever, respiratory distress) mask infrequent but life-threatening conditions, resulting in delayed recognition and suboptimal outcomes. This narrative review synthesizes the literature from 2000-2025 on rare SCD complications, including atypical neurological events (e.g., spontaneous epidural or subdural hematoma, central retinal artery occlusion, cerebral arteriovenous malformations, posterior reversible encephalopathy syndrome), uncommon hematologic syndromes (acute leukemia, extramedullary hematopoiesis in unusual sites, hemophagocytic lymphohistiocytosis), severe cardiopulmonary emergencies (acute multiorgan failure and fat embolism syndromes), unusual hepatic crises (acute hepatic sequestration, intrahepatic cholestasis), and others (e.g., compartment syndrome). Key insights underscore the need for high clinical suspicion and prompt use of advanced diagnostics (e.g., MRI, specialized laboratory tests) when patients present with atypical or disproportionate symptoms. Clinical implications: Heightening clinician awareness of these rare complications and implementing structured diagnostic strategies can facilitate earlier intervention, improving outcomes and reducing the high morbidity and mortality associated with these infrequent but severe events.
镰状细胞病（SCD）是一种遗传性血红蛋白疾病，其特征为慢性溶血和反复的血管闭塞性危机，可导致多种并发症。虽然常见的SCD表现有既定的管理方案，但罕见和非典型并发症带来了重大的诊断和治疗挑战。一个关键障碍是诊断遮蔽，即常见的SCD症状（疼痛、发热、呼吸窘迫）掩盖了罕见但危及生命的情况，导致识别延迟和预后不佳。这篇叙述性综述综合了2000年至2025年关于罕见SCD并发症的文献，包括非典型神经系统事件（如自发性硬膜外或硬膜下血肿、视网膜中央动脉阻塞、脑动静脉畸形、后部可逆性脑病综合征）、不常见的血液学综合征（急性白血病、异常部位的髓外造血、噬血细胞性淋巴组织细胞增生症）、严重的心肺紧急情况（急性多器官衰竭和脂肪栓塞综合征）、不寻常的肝脏危机（急性肝脾滞留、肝内胆汁淤积）以及其他情况（如骨筋膜室综合征）。关键见解强调，当患者出现非典型或不成比例的症状时，需要高度的临床怀疑并及时使用先进的诊断方法（如MRI、专门的实验室检查）。临床意义：提高临床医生对这些罕见并发症的认识并实施结构化的诊断策略，可以促进早期干预，改善预后，并降低与这些罕见但严重事件相关的高发病率和死亡率。
