Division of Cancer Studies, Molecular Haematology, King's College London School of Medicine, London, United Kingdom;
Blood. 2014 Apr 10;123(15):2302-7. doi: 10.1182/blood-2013-12-542076. Epub 2014 Feb 24.
Sickle cell disease (SCD) has evolved into a debilitating disorder with emerging end-organ damage. One of the organs affected is the liver, causing "sickle hepatopathy," an umbrella term for a variety of acute and chronic pathologies. Prevalence of liver dysfunction in SCD is unknown, with estimates of 10%. Dominant etiologies include gallstones, hepatic sequestration, viral hepatitis, and sickle cell intrahepatic cholestasis (SCIC). In addition, causes of liver disease outside SCD must be identified and managed. SCIC is an uncommon, severe subtype, with outcome of its acute form having vastly improved with exchange blood transfusion (EBT). In its chronic form, there is limited evidence for EBT programs as a therapeutic option. Liver transplantation may have a role in a subset of patients with minimal SCD-related other organ damage. In the transplantation setting, EBT is important to maintain a low hemoglobin S fraction peri- and posttransplantation. Liver dysfunction in SCD is likely to escalate as life span increases and patients incur incremental transfusional iron overload. Future work must concentrate on not only investigating the underlying pathogenesis, but also identifying in whom and when to intervene with the 2 treatment modalities available: EBT and liver transplantation.
镰状细胞病(SCD)已发展成为一种衰弱性疾病,出现新的终末器官损伤。受影响的器官之一是肝脏,导致“镰状肝细胞病”,这是各种急性和慢性病理的总称。SCD 患者的肝功能障碍的患病率尚不清楚,估计为 10%。主要病因包括胆结石、肝内扣押、病毒性肝炎和镰状细胞肝内胆汁淤积症(SCIC)。此外,还必须确定和处理 SCD 以外的肝病原因。SCIC 是一种罕见的严重亚型,其急性形式的预后因换血输血(EBT)而大大改善。在慢性形式中,EBT 作为一种治疗选择的证据有限。对于少数 SCD 相关其他器官损伤最小的患者,肝移植可能具有一定作用。在移植环境中,EBT 对于维持移植前后血红蛋白 S 分数的低值很重要。随着寿命的延长和患者发生递增性输血铁过载,SCD 中的肝功能障碍可能会加剧。未来的工作必须不仅集中在研究潜在的发病机制上,还要确定在哪些患者以及何时使用两种可用的治疗方法进行干预:EBT 和肝移植。