Table_1_Portal hypertension in common variable immunodeficiency disorders – a single center analysis on clinical and immunological parameter in 196 patients.xlsx

BackgroundLiver manifestations and in particular portal hypertension (PH) contribute significantly to morbidity and mortality of patients with common variable immunodeficiency disorders (CVID). Screening strategies and early detection are limited due to the lack of specific diagnostic tools.MethodsWe evaluated clinical, immunological, histological, and imaging parameters in CVID patients with clinical manifestation of portal hypertension (CVID+PH).ResultsPortal hypertension was present in 5.6% of CVID patients and was associated with high clinical burden and increased mortality (18%). Longitudinal data on clinical and immunological parameters in patients before and during clinically manifest portal hypertension revealed a growing splenomegaly and increasing gamma-glutamyl transferase (GGT) and soluble interleukin 2 receptor (SIL-2R) levels with decreasing platelets over time. While ultrasound of the liver failed to detect signs of portal hypertension in most affected patients, transient elastography was elevated in all patients. All CVID+PH patients had reduced naïve CD45RA+CD4+ T-cells (mean of 6,2%). The frequency of severe B-lymphocytopenia (Euroclass B-) was higher in CVID+PH patients. The main histological findings included lymphocytic infiltration, nodular regenerative hyperplasia-like changes (NRH-LC), and porto(-septal) fibrosis.ConclusionCVID patients with lower naïve CD45RA+CD4+ T-cells or severely reduced B-cells might be at higher risk for portal hypertension. The combination of biochemical (increasing sIL-2R, GGT, and decreasing platelets) and imaging parameters (increasing splenomegaly) should raise suspicion of the beginning of portal hypertension.

背景：肝脏表现，尤其是门脉高压（PH），在常见变异免疫缺陷病（CVID）患者的发病率和死亡率中起着显著作用。由于缺乏特异性诊断工具，筛查策略和早期检测受限。方法：我们评估了具有临床门脉高压表现的CVID患者（CVID+PH）的临床、免疫学、组织学和影像学参数。结果：门脉高压存在于5.6%的CVID患者中，并与高临床负担和增加的死亡率（18%）相关。患者在临床门脉高压表现前后及期间的临床和免疫学参数的纵向数据揭示了脾脏肿大的逐渐增大、γ-谷氨酰转移酶（GGT）和可溶性白细胞介素2受体（SIL-2R）水平的增加以及血小板随时间减少。尽管肝脏超声在大多数受影响的患者中未能检测到门脉高压的迹象，但瞬时弹性成像在所有患者中均升高。所有CVID+PH患者均具有降低的未成熟CD45RA+CD4+ T细胞（平均6.2%）。严重B淋巴细胞减少症（Euroclass B-）的频率在CVID+PH患者中更高。主要组织学发现包括淋巴细胞浸润、结节性再生性增生样变化（NRH-LC）和门脉（-隔）纤维化。结论：具有较低未成熟CD45RA+CD4+ T细胞或严重减少B细胞的CVID患者可能面临更高的门脉高压风险。生化参数（sIL-2R、GGT增加，血小板减少）和影像学参数（脾脏肿大增加）的结合应引起对门脉高压起始的怀疑。