Baumert Lukas S, Shih Angela, Chung Raymond T
Liver Center, Gastrointestinal Unit, Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Faculty of Medicine, Eberhard-Karls University of Tübingen, Tübingen, Germany.
JHEP Rep. 2023 Aug 13;5(11):100882. doi: 10.1016/j.jhepr.2023.100882. eCollection 2023 Nov.
Patients with common variable immunodeficiency (CVID) frequently develop liver disease and associated complications, which represent an increasingly prevalent unmet medical need. The main hepatic manifestation of CVID is nodular regenerative hyperplasia (NRH), resulting in non-cirrhotic portal hypertension (NCPH). Liver disease is often underdiagnosed, leading to poor outcomes and decreased survival. The increasing numbers of patients with CVID who are diagnosed late with progressive liver disease underscores the importance of appropriate clinical management and treatment of liver complications. At the same time, specific guidelines for the clinical management of CVID-related liver disease are still lacking. Here, we review the epidemiology of CVID-related liver disease, reveal new insights into NRH and NCPH biology and highlight recently uncovered opportunities for NCPH diagnostics in CVID. Finally, we focus on current management of liver disease, portal hypertension and its complications - the key challenge in patients with CVID. Specifically, we review recent data regarding the role of transjugular intrahepatic portosystemic shunt and liver transplantation in clinical management. The role for anticoagulants and immunosuppressants targeting the pathogenesis of NRH will also be discussed. We propose an updated algorithm for the diagnostic work-up and treatment of NCPH in CVID. Finally, we consider future needs and therapeutic opportunities for CVID-related liver disease.
普通可变免疫缺陷(CVID)患者常发生肝脏疾病及相关并发症,这代表了一种日益普遍的未满足医疗需求。CVID的主要肝脏表现是结节性再生性增生(NRH),导致非肝硬化性门静脉高压(NCPH)。肝脏疾病常常诊断不足,导致预后不良和生存率降低。越来越多的CVID患者因进展性肝脏疾病而诊断延迟,这凸显了对肝脏并发症进行适当临床管理和治疗的重要性。与此同时,CVID相关肝脏疾病的临床管理具体指南仍然缺乏。在此,我们回顾CVID相关肝脏疾病的流行病学,揭示对NRH和NCPH生物学的新见解,并强调最近发现的CVID中NCPH诊断机会。最后,我们关注肝脏疾病、门静脉高压及其并发症的当前管理——这是CVID患者的关键挑战。具体而言,我们回顾了关于经颈静脉肝内门体分流术和肝移植在临床管理中的作用的最新数据。还将讨论针对NRH发病机制的抗凝剂和免疫抑制剂的作用。我们提出了一种更新的算法,用于CVID中NCPH的诊断检查和治疗。最后,我们考虑CVID相关肝脏疾病的未来需求和治疗机会。