Resumo

MATIAS-PEREZ, Diana; PEREZ-CAMPOS, Eduardo  e  GARCIA-MONTALVO, Iván Antonio. A genetic view of familial hypercholesterolemia. Nutr. Hosp. [online]. 2015, vol.32, n.6, pp.2421-2426. ISSN 1699-5198.  https://dx.doi.org/10.3305/nh.2015.32.6.9885.

Objective: to show reviewed information of published studies relating to Familial Hypercholesterolemia (FH), nutrition, and genes involved in the development of this pathology. Results: an analysis showing familial hypercholesterolemia as a disorder occuring due to mutations in gene encoding of the LDL receptor, which can be transmitted as an autosomal dominant or autosomal recessive. It's diagnosis is important for those with a greater likelihood of premature coronary disease, and can significantly reduce life expectancy. Conclusions: there are no specific clinical criteria with absolute predictive value for the diagnosis of HF, Genetic diagnosis can prove functional defects in the LDL receptor gene, constituting definitive confirmation of the diagnosis, thus the importance of presenting a genetic vision of development of this disease, which can be treated adequately through diet therapy affecting future generations in the family concerned.

Palavras-chave : FH; Genes; ECV.

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