Department of Immunology, Hospital Universitario Son Espases, Palma, Spain.
Research Unit, Balearic Islands Health Research Institute (IdISBa), Palma, Spain.
Front Immunol. 2023 Jun 5;14:1197361. doi: 10.3389/fimmu.2023.1197361. eCollection 2023.
The clinical spectrum of common variable immunodeficiency (CVID) includes predisposition to infections, autoimmune/inflammatory complications and malignancy. Liver disease is developed by a proportion of patients with CVID, but limited evidence is available about its prevalence, pathogenesis and prognostic outcome. This lack of evidence leads to the absence of guidelines in clinical practice. In this study, we aimed at defining the characteristics, course and management of this CVID complication in Spain.
Spanish reference centers were invited to complete a cross-sectional survey. Thirty-eight patients with CVID-related liver disease from different hospitals were evaluated by a retrospective clinical course review.
In this cohort, abnormal liver function and thrombocytopenia were found in most of the patients (95% and 79% respectively), in keeping with the higher incidence of abnormal liver imaging and splenomegaly. The most common histological findings included nodular regenerative hyperplasia (NRH) and lymphocytic infiltration, which have been associated with portal hypertension (PHTN) leading to a poorer prognosis. Autoimmune/inflammatory complications occurred in 82% of the CVID patients that developed liver disease and 52% of the patients treated with immunomodulators showed a reduction in the liver function tests' abnormalities during treatment. Among the experts that conducted the survey, there was 80% or more consensus that the workup of CVID-related liver disease requires liver profile, abdominal ultrasound and transient elastography. The majority agreed that liver biopsy should be essential for diagnosis. There was 94% consensus that endoscopic studies should be performed in the presence of PHTN. However, there was 89% consensus that there is insufficient evidence on the management of these patients.
Liver disease varies in severity and may contribute substantially to morbidity and mortality in patients with CVID. Hence the importance of close follow-up and screening of this CVID complication to prompt early targeted intervention. Further research is needed to evaluate the pathophysiology of liver disease in patients with CVID to identify personalized treatment options. This study emphasizes the urgent need to develop international guidelines for the diagnosis and management of this CVID complication.
普通变异型免疫缺陷病（CVID）的临床特征包括易感染、自身免疫/炎症并发症和恶性肿瘤。一部分 CVID 患者会发生肝脏疾病，但目前关于其患病率、发病机制和预后结果的证据有限。由于缺乏证据，导致在临床实践中缺乏指南。在本研究中，我们旨在确定西班牙 CVID 相关肝脏疾病的特征、病程和管理方法。
邀请西班牙参考中心完成一项横断面调查。通过回顾性临床病程评估，对来自不同医院的 38 例 CVID 相关肝脏疾病患者进行评估。
在该队列中，大多数患者（分别为 95%和 79%）存在肝功能异常和血小板减少，这与较高的异常肝脏影像学和脾肿大发生率一致。最常见的组织学发现包括结节性再生性增生（NRH）和淋巴细胞浸润，这与门静脉高压（PHTN）相关，导致预后较差。发生肝脏疾病的 CVID 患者中有 82%出现自身免疫/炎症并发症，接受免疫调节剂治疗的患者中有 52%在治疗过程中肝功能检查异常减少。在进行调查的专家中，有 80%或更多的专家认为 CVID 相关肝脏疾病的检查需要进行肝脏检查、腹部超声和瞬时弹性成像。大多数专家认为肝活检对于诊断是必不可少的。有 94%的专家认为存在 PHTN 时应进行内镜检查。然而，有 89%的专家认为目前对于这些患者的管理证据不足。
肝脏疾病的严重程度不同，可能会对 CVID 患者的发病率和死亡率产生重大影响。因此，密切随访和筛查 CVID 并发症对于及时进行有针对性的干预非常重要。需要进一步研究以评估 CVID 患者肝脏疾病的病理生理学，以确定个性化的治疗选择。本研究强调了迫切需要制定国际指南来诊断和管理这种 CVID 并发症。
