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Liver damage and sickle cell disease: genotype relationship.

肝损害与镰状细胞病: 基因型关系。

  • 影响因子:1.94
  • DOI:10.1007/s00277-020-04113-3
  • 作者列表:"Bortolotti M","D'Ambrosio R","Fraquelli M","Pedrotti P","Consonni D","Migone De Amicis M","Scaramellini N","Di Pierro E","Graziadei G
  • 发表时间:2020-09-01
Abstract

: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.

摘要

: 镰状肝病是镰状细胞病 (SCD) 的一种严重且并不罕见的并发症,主要表现为胆汁淤积型。到目前为止,还没有发现预防或治疗这种疾病的有效方法。我们在68例成人镰状细胞病患者中进行了一项单中心观察性研究,包括17例镰状细胞贫血 (SCA),38例镰状细胞地中海贫血 (HbS/β-Thal),13例HbSC病.我们研究的目的是通过临床,实验室和影像学结果的评估来评估SCD的三种主要形式的肝损害。在我们的人群中,嗜肝病毒,高BMI和饮酒在肝损伤中的作用被排除。具有较低Hb (p <0.001) 、较高HbS (p <0.001) 和频繁血管闭塞危象的SCA和HbS/β-Thal患者表现出功能性 (GGT值: SCA和HbS/β-Thal与HbSC比较p = 0.047和p = 0.009) 和肝脏结构异常,由腹部超声和振动控制的瞬时弹性成像定义 (肝脏硬度值:SCA和HbS/β-Thal分别与HbSC比较p 0.022和p 0.19),比HbSC患者更严重。通过单变量和多变量分析,男性性别,SCA基因型,较低的HbF,频繁的输血,增加的GGT值,异常的肝脏超声和硬度被确定为镰状肝病的潜在早期标志物。

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影响因子:1.74
发表时间:2020-02-01
DOI:10.1177/1049909119868657
作者列表:["Suarez ML","Schlaeger JM","Angulo V","Shuey DA","Carrasco J","Roach KL","Ezenwa MO","Yao Y","Wang ZJ","Molokie RE","Wilkie DJ"]

METHODS:OBJECTIVES:Sickle cell disease (SCD) is a serious illness with disabling acute and chronic pain that needs better therapies, but insufficient patient participation in research is a major impediment to advancing SCD pain management. The purpose of this article is to discuss the challenges of conducting an SCD study and approaches to successfully overcoming those challenges. DESIGN:In a repeated-measures, longitudinal study designed to characterize SCD pain phenotypes, we recruited 311 adults of African ancestry. Adults with SCD completed 4 study visits 6 months apart, and age- and gender-matched healthy controls completed 1 visit. RESULTS:We recruited and completed measures on 186 patients with SCD and 125 healthy controls. We retained 151 patients with SCD with data at 4 time points over 18 months and 125 healthy controls (1 time point) but encountered many challenges in recruitment and study visit completion. Enrollment delays often arose from patients' difficulty in taking time from their complicated lives and frequent pain episodes. Once scheduled, participants with SCD cancelled 49% of visits often because of pain; controls canceled 30% of their scheduled visits. To facilitate recruitment and retention, we implemented a number of strategies that were invaluable in our success. CONCLUSION:Patients' struggles with illness, chronic pain, and their life situations resulted in many challenges to recruitment and completion of study visits. Important to overcoming challenges was gaining the trust of patients with SCD and a participant-centered approach. Early identification of potential problems allowed strategies to be instituted proactively, leading to success.

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