LCAT (lecithin-cholesterol acyltransferase) deficiency is characterized by two distinct phenotypes, familial LCAT deficiency (FLD) and Fish Eye disease (FED). This is the first systematic review evaluating the ethnic distribution of LCAT deficiency, with particular emphasis on Latin America and the discussion of three Mexican-Mestizo probands. A systematic review was conducted following the PRISMA (Preferred Reporting Items for Systematic review and Meta-Analysis) Statement in Pubmed and SciELO. Articles which described subjects with LCAT deficiency syndromes and an assessment of the ethnic group to which the subject pertained, were included. The systematic review revealed 215 cases (154 FLD, 41 FED and 20 unclassified) pertaining to 33 ethnic/racial groups. There was no association between genetic alteration and ethnicity. The mean age of diagnosis was 42 ± 16.5 years, with fish eye disease identified later than familial LCAT deficiency (55 ± 13.8 vs. 41 ± 14.7 years respectively). The prevalence of premature coronary heart disease was significantly greater in FED vs. FLD. In Latin America, 48 cases of LCAT deficiency have been published from six countries (Argentina (1 unclassified), Brazil (38 FLD), Chile (1 FLD), Columbia (1 FLD), Ecuador (1 FLD) and Mexico (4 FLD, 1 FED and 1 unclassified). Of the Mexican probands, one showed a novel LCAT mutation. The systematic review shows that LCAT deficiency syndromes are clinically and genetically heterogeneous. No association was confirmed between ethnicity and LCAT mutation. There was a significantly greater risk of premature coronary artery disease in fish eye disease compared to familial LCAT deficiency. In FLD, the emphasis should be in preventing both cardiovascular disease and the progression of renal disease, while in FED, cardiovascular risk management should be the priority. The LCAT mutations discussed in this article are the only ones reported in the Mexican- Amerindian population.

中文翻译：

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LCAT 缺陷：对墨西哥亲属的临床和遗传描述的系统评价

LCAT（卵磷脂-胆固醇酰基转移酶）缺乏症的特征在于两种不同的表型，即家族性 LCAT 缺乏症（FLD）和鱼眼病（FED）。这是评估 LCAT 缺乏症的种族分布的第一个系统评价，特别强调拉丁美洲和对三名墨西哥-混血儿先证者的讨论。根据 Pubmed 和 SciELO 的 PRISMA（系统评价和元分析的首选报告项目）声明进行了系统评价。文章包括描述患有 LCAT 缺乏综合征的受试者和对该受试者所属种族群体的评估。系统评价揭示了涉及 33 个民族/种族群体的 215 例病例（154 例 FLD、41 例 FED 和 20 例未分类）。基因改变与种族之间没有关联。诊断的平均年龄为 42 ± 16.5 岁，发现鱼眼病晚于家族性 LCAT 缺乏症（分别为 55 ± 13.8 对 41 ± 14.7 岁）。FED 与 FLD 的早发性冠心病患病率明显更高。在拉丁美洲，来自六个国家（阿根廷（1 个未分类）、巴西（38 个 FLD）、智利（1 个 FLD）、哥伦比亚（1 个 FLD）、厄瓜多尔（1 个 FLD）和墨西哥（4 个 FLD）公布了 48 个 LCAT 缺乏病例, 1 名 FED 和 1 名未分类）。在墨西哥先证者中，一名表现出新的 LCAT 突变。系统评价表明，LCAT 缺乏综合征在临床和遗传上具有异质性。没有确认种族与 LCAT 突变之间存在关联。风险显着增加与家族性 LCAT 缺乏症相比，鱼眼病中的早发性冠状动脉疾病。在 FLD 中，重点应该是预防心血管疾病和肾脏疾病的进展，而在 FED 中，心血管风险管理应该是优先事项。本文中讨论的 LCAT 突变是墨西哥-美洲印第安人人群中唯一报道的突变。