Division of Hematology, Mayo Clinic, Rochester, MN 55905, USA.
Blood. 2013 Aug 15;122(7):1114-21. doi: 10.1182/blood-2013-02-474437. Epub 2013 Jun 11.
Cold agglutinin disease is a rare and poorly understood disorder affecting 15% of patients with autoimmune hemolytic anemia. We reviewed the clinical and pathologic features, prognosis, and management in the literature and describe our institutional experience to improve strategies for accurate diagnosis and treatment. Retrospective analysis identified 89 patients from our institution with cold agglutinin disease from 1970 through 2012. Median age at symptom onset was 65 years (range, 41 to 83 years), whereas the median age at diagnosis was 72 years (range, 43 to 91 years). Median survival of all patients was 10.6 years, and 68 patients (76%) were alive 5 years after the diagnosis. The most common symptom was acrocyanosis (n = 39 [44%]), and many had symptoms triggered by cold (n = 35 [39%]) or other factors (n = 20 [22%]). An underlying hematologic disorder was detected in 69 patients (78%). Thirty-six patients (40%) received transfusions during their disease course, and 82% received drug therapy. Rituximab was associated with the longest response duration (median, 24 months) and the lowest proportion of patients needing further treatment (55%). Our institution's experience and review of the literature confirms that early diagnostic evaluation and treatment improves outcomes in cold agglutinin disease.
冷凝集素病是一种罕见且尚未被充分了解的疾病，影响自身免疫性溶血性贫血患者的 15%。我们回顾了文献中的临床和病理特征、预后和治疗方法，并描述了我们机构的经验，以改善准确诊断和治疗的策略。回顾性分析确定了 1970 年至 2012 年期间我院 89 例冷凝集素病患者。症状发作时的中位年龄为 65 岁（范围，41 至 83 岁），而诊断时的中位年龄为 72 岁（范围，43 至 91 岁）。所有患者的中位生存时间为 10.6 年，68 例（76%）在诊断后 5 年内仍存活。最常见的症状是肢端发绀（n = 39 [44%]），许多患者有因寒冷（n = 35 [39%]）或其他因素（n = 20 [22%]）引发的症状。69 例患者（78%）发现有潜在的血液学疾病。36 例（40%）患者在病程中接受输血，82%患者接受药物治疗。利妥昔单抗与最长的反应持续时间（中位数 24 个月）和需要进一步治疗的患者比例最低（55%）相关。我们机构的经验和文献复习证实，早期诊断评估和治疗可改善冷凝集素病的预后。
