LCAT deficiency: a systematic review with the clinical and genetic description of Mexican kindred
| Autor: | Maria Teresa Tusié, Carlos A. Aguilar-Salinas, Daniel Elías-López, Maria Luisa Ordóñez Sánchez, Yayoi Segura, Roopa Mehta, Alexandro J. Martagón, Oscar Pérez-Méndez |
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| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
Proband medicine.medical_specialty RC620-627 Endocrinology Diabetes and Metabolism Clinical Biochemistry Clinical nutrition Disease 030204 cardiovascular system & hematology Coronary artery disease Phosphatidylcholine-Sterol O-Acyltransferase Renal disease 03 medical and health sciences 0302 clinical medicine Endocrinology Lecithin Cholesterol Acyltransferase Deficiency HDL cholesterol Internal medicine LCAT deficiency Ethnicity Medicine Humans Genetic Predisposition to Disease Nutritional diseases. Deficiency diseases Fish-Eye Disease Mexico biology business.industry Genetic heterogeneity Research Biochemistry (medical) Racial Groups fungi medicine.disease Cardiovascular risk 030104 developmental biology Lecithin—cholesterol acyltransferase biology.protein Indians North American business Lipidology |
| Zdroj: | Lipids in Health and Disease, Vol 20, Iss 1, Pp 1-18 (2021) Lipids in Health and Disease |
| Popis: | Background 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. Methods 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. Results 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. Conclusions 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. |
| Databáze: | OpenAIRE |
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