17例原发性冷凝集素病患者的临床特征与转归

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.