Objective: To explore the clinical characteristics, treatment and prognosis in 17 patients with primary cold agglutinin disease (CAD) . Methods: Clinical data, treatment and survival status of 17 patients diagnosed with primary cold agglutinin disease in Peking Union Medical College Hospital during April 2007 to October 2016 were retrospectively analyzed. The MYD88(L265P) mutation was tested in 4 patients. Results: The median age of 17 patients was 67 years (range, 51-86 years) , and male- to female ratio was 1.1∶1. Seven patients were diagnosed with indolent lymphoma, including 3 Waldenstrom macroglobulinemia/lymphoplasmacytic lymphoma (WM/LPL) , 2 small lymphocytic lymphoma/chronic lymphocytic leukemia (SLL/CLL) , and 2 splenic marginal zone lymphoma (SMZL) . 15 patients experienced anemia. The median HGB level was 67 (35-127) g/L. 11 patients had cold agglutinin (CA) titers ≥1∶64, with median CA of 1∶1 024. MYD88(L265P) mutation was detected in 1 patient. 12 patients received drug therapy: 7 were treated with glucocorticoid-based therapy and 1 patient responded to treatment; 5 received rituximab-based therapy and 3 patients responded to treatment. With a median follow-up of 14 (0.5-96) months, the median overall survival was not reached. Conclusion: Clinical manifestations of CAD are various, and diagnosis is dependent on CA testing. The efficacy of glucocorticoid-based therapy is limited, and rituximab is recommended for CAD treatment.
目的： 探讨17例原发性冷凝集素病（CAD）患者的临床特征、治疗及转归。 方法： 回顾性分析2007年4月至2016年10月北京协和医院确诊的17例原发性CAD患者的临床资料、治疗和转归，并检测了其中4例患者MYD88(L265P)突变情况。 结果： 17例患者中，男女比为1.1∶1，中位年龄67 （51～86）岁。7例伴有惰性淋巴瘤，包括3例华氏巨球蛋白血症/淋巴浆细胞淋巴瘤（WM/LPL），2例小淋巴细胞淋巴瘤/慢性淋巴细胞白血病（SLL/CLL）和2例脾边缘区淋巴瘤（SMZL）。患者中位HGB为67（35～127）g/L，15例存在贫血。11例患者的冷凝集素（CA）滴度≥1∶64，中位CA滴度为1∶1 024。4例行MYD88(L265P)突变检测的患者中1例MYD88(L265P)阳性。12例患者接受了药物治疗：7例使用糖皮质激素为基础的化疗，1例有效；5例使用利妥昔单抗为基础的免疫化疗的治疗，3例有效。1例患者失访，其余16例患者中位随访14（0.5～96）个月，中位总体生存时间尚未达到。 结论： CAD的临床表现多样，CA检测是诊断CAD的关键。CAD糖皮质激素治疗效果不佳，推荐利妥昔单抗治疗。.
Keywords: Anemia, hemolytic, autoimmune; Cold agglutinin; Rituximab.