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Liver damage and sickle cell disease: genotype relationship.
Annals of Hematology ( IF 3.5 ) Pub Date : 2020-06-22 , DOI: 10.1007/s00277-020-04113-3
Marta Bortolotti 1 , Roberta D'Ambrosio 2 , Mirella Fraquelli 3 , Patrizia Pedrotti 4 , Dario Consonni 1, 5 , Margherita Migone De Amicis 6 , Natalia Scaramellini 1 , Elena Di Pierro 6 , Giovanna Graziadei 6
Affiliation  

Sickle hepatopathy is a severe and not rare complication of sickle cell disease (SCD), showing mainly a cholestatic pattern. So far, no effective approaches to prevent or treat this condition have been recognized. We conducted a single-center observational study in 68 adult sickle cell patients, encompassing 17 with sickle cell anemia (SCA), 38 with sickle cell thalassemia (HbS/β-Thal), and 13 with HbSC disease. The aim of our study was to assess liver damage in the three main forms of SCD, through the evaluation of clinical, laboratory, and imaging findings. In our population, the role of hepatotropic viruses, high BMI, and alcohol consumption in liver damage was ruled out. SCA and HbS/β-Thal patients with lower Hb (p < 0.001), higher HbS (p < 0.001), and frequent vaso-occlusive crises showed functional (GGT values: SCA and HbS/β-Thal vs HbSC p = 0.047 and p = 0.009, respectively) and structural liver abnormalities, defined by abdominal ultrasound and vibration-controlled transient elastography (liver stiffness values: SCA and HbS/β-Thal vs HbSC p 0.022 and p 0.19, respectively), more severe than HbSC patients. Through univariate and multivariate analyses, male sex, SCA genotype, lower HbF, frequent transfusions, increased GGT values, and abnormal liver ultrasound and stiffness were identified as potentially early markers of sickle hepatopathy.



中文翻译:

肝损害和镰状细胞疾病:基因型关系。

镰状肝病是镰状细胞病(SCD)的一种严重且并非罕见的并发症,主要表现为胆汁淤积型。迄今为止,尚未发现预防或治疗这种疾病的有效方法。我们对68名成人镰状细胞病患者进行了单中心观察性研究,其中包括17例镰状细胞性贫血(SCA),38例镰状细胞性地中海贫血(HbS /β-Thal)和13例HbSC疾病。我们研究的目的是通过评估临床,实验室和影像学发现来评估SCD三种主要形式的肝损害。在我们的人群中,已排除了肝炎病毒,高BMI和饮酒对肝脏损害的作用。SCA和HbS /β-Thal患者的Hb较低(p  <0.001),HbS较高(p <0.001)和频繁的血管闭塞性危机显示功能性(GGT值:SCA和HbS /β-Thal与HbSC分别为p  = 0.047和p  = 0.009)和结构性肝异常,由腹部超声和振动控制的瞬时弹性成像确定(肝硬度值:SCA和HbS /β-Thal与HbSC分别为p 0.022和p 0.19),比HbSC患者更为严重。通过单因素和多因素分析,男性,SCA基因型,较低的HbF,频繁的输血,GGT值升高以及异常的肝脏B超和僵硬被确定为镰状肝病的早期标志。

更新日期:2020-06-22
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