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Abstract：
Familial lecithin:cholesterol acyltransferase (LCAT) deficiency is a rare inherited disorder that causes an extremely low high-density lipoprotein cholesterol concentration in serum. Recently, acquired LCAT deficiency caused by IgG antibodies to LCAT, without any LCAT gene mutation, was reported. Here we describe a case of acquired LCAT deficiency occurring in association with sarcoidosis. The patient was a Japanese female aged 70 years, had no mutation in the LCAT gene exon sequence, but had an LCAT inhibitor factor in her serum, detected using lipoprotein-deficient serum. She was diagnosed with acquired LCAT deficiency. Her abnormalities of serum lipoproteins improved spontaneously during three and a half years. Because they require different treatment strategies, distinction between familial lecithin:cholesterol acyltransferase deficiency (FLD) and acquired LCAT deficiency by gene sequencing is warranted, especially in cases without corneal clouding.
摘要：
家族性卵磷脂：胆固醇酰基转移酶（LCAT）缺乏症是一种罕见的遗传性疾病，可导致血清中高密度脂蛋白胆固醇浓度极低。最近,由针对LCAT的IgG抗体引起的获得性LCAT缺乏症，没有任何LCAT基因突变,已报告。在这里，我们描述了一例与结节病相关的获得性LCAT缺乏症。病人是一名70岁的日本女性，LCAT基因外显子序列没有突变,但她的血清中有LCAT抑制因子,使用脂蛋白缺乏血清检测。她被诊断为获得性LCAT缺乏症。她的血清脂蛋白异常在三年半的时间内自发改善。因为它们需要不同的治疗策略，家族性卵磷脂：胆固醇酰基转移酶缺乏症（FLD）和获得性LCAT缺乏通过基因测序的区别是必要的，尤其是在没有角膜混浊的情况下。
