Maira D, Cassinerio E, Marcon A, Mancarella M, Fraquelli M, Pedrotti P, Cappellini M D
Rare Disease Center, Department of Medicine and Medical Specialities, Ca' Granda Foundation IRCCS Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.
Second Division of Gastroenterology, Ca' Granda Foundation IRCCS Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.
Ann Hematol. 2017 Nov;96(11):1931-1936. doi: 10.1007/s00277-017-3120-9. Epub 2017 Sep 5.
A substantial proportion of patients with transfusion-dependent beta-thalassemia major suffer from chronic liver disease. Iron overload resulting from repeated transfusions and HCV infection has been implicated in the development of liver fibrosis. Hepatic siderosis and fibrosis were assessed in 99 transfusion-dependent thalassemia (TDT) patients using transient elastography (TE) and liver iron concentration (LIC) assessed by T2*MRI at baseline and after 4 years. Data were analyzed retrospectively. At baseline, the overall mean liver stiffness measurement (LSM) was 7.4 ± 3.2 kPa and the mean LIC was 4.81 ± 3.82 mg/g dw (n = 99). Data available at 4 ± 1.5 years showed a significant reduction in LSM (6.6 ± 3.2 kPa, p 0.017) and hepatic siderosis measured by LIC (3.65 ± 3.45 mg/g dw, p 0.001). This result was confirmed when considering patients with iron overload at the time of the first measurement (n = 41) and subjects treated with a stable dose of deferasirox over the entire period of observation (n = 39). A reduction of LSM, yet not statistically significant, was achieved in patients on combined deferoxamine + deferiprone, while the group on deferoxamine (n = 11) remained stable over time. HCV-RNA positivity was found in 33 patients at T0, 20 of which were treated during the observation period. Patients who underwent anti-HCV therapy showed a more evident reduction in LSM (9 ± 3 vs 7 ± 3.1 kPa, p 0.016). Adequate chelation therapy is mandatory in order to prevent liver disease progression in TDT. Patients could benefit from regular non-invasive assessment of liver fibrosis by TE to indirectly monitor treatment adequacy and therapeutic compliance.
大部分依赖输血的重型β地中海贫血患者患有慢性肝病。反复输血导致的铁过载和丙型肝炎病毒（HCV）感染与肝纤维化的发生有关。在99例依赖输血的地中海贫血（TDT）患者中，使用瞬时弹性成像（TE）和通过T2*MRI评估的肝脏铁浓度（LIC）在基线和4年后评估肝铁沉着症和纤维化。数据进行回顾性分析。基线时，总体平均肝脏硬度测量值（LSM）为7.4±3.2 kPa，平均LIC为4.81±3.82 mg/g干重（n = 99）。在4±1.5年时可获得的数据显示，LSM显著降低（6.6±3.2 kPa，p = 0.017），通过LIC测量的肝铁沉着症也显著降低（3.65±3.45 mg/g干重，p = 0.001）。在首次测量时存在铁过载的患者（n = 41）和在整个观察期内接受稳定剂量地拉罗司治疗的受试者（n = 39）中，这一结果得到了证实。接受去铁胺+去铁酮联合治疗的患者LSM有所降低，但无统计学意义，而去铁胺治疗组（n = 11）随时间保持稳定。在T0时，33例患者检测到HCV-RNA阳性，其中20例在观察期内接受了治疗。接受抗HCV治疗的患者LSM降低更为明显（9±3 vs 7±3.1 kPa，p = 0.016）。为防止TDT患者肝病进展，必须进行充分的螯合治疗。患者可受益于通过TE对肝纤维化进行定期非侵入性评估，以间接监测治疗的充分性和治疗依从性。
