Akiko Tanino, Okura Takafumi, Nagao Tomoaki, Kukida Masayoshi, Enomoto Daijiro, Miyoshi Ken-Ichi, Higaki Jitsuo, Kuroda Masayuki, Bujo Hideaki
Department of Cardiology, Pulmonology, Hypertension and Nephrology, Ehime University Graduate School of Medicine, Toon, Ehime, 791-0295, Japan.
Center for Advanced Medicine, Chiba University Hospital, Chiba University, Chiba, 260-8677, Japan.
CEN Case Rep. 2016 Nov;5(2):192-196. doi: 10.1007/s13730-016-0223-4. Epub 2016 Jun 7.
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.
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，有报道称存在由针对LCAT的IgG抗体引起的获得性LCAT缺乏症，且无任何LCAT基因突变。在此，我们描述一例与结节病相关的获得性LCAT缺乏症病例。该患者为一名70岁的日本女性，LCAT基因外显子序列无突变，但使用无脂蛋白血清检测发现其血清中存在LCAT抑制因子。她被诊断为获得性LCAT缺乏症。在三年半的时间里，她的血清脂蛋白异常自发改善。由于它们需要不同的治疗策略，因此通过基因测序区分家族性卵磷脂胆固醇酰基转移酶缺乏症（FLD）和获得性LCAT缺乏症是必要的，尤其是在没有角膜混浊的病例中。
