Clinical approach and differential diagnosis of hereditary dyslipidaemias of genetic origin [Abordaje clínico y diagnóstico diferencial de las dislipidemias hereditarias de origen genético]
DOI:
https://doi.org/10.62574/8j8ydb30Keywords:
Type II hypercholesterolemia, differential diagnosis, genetic predisposition to the diseaseAbstract
Objective: To study hereditary dyslipidaemias from a clinical and differential diagnostic approach, focusing on genetically-induced hypercholesterolemia. Method: A systematic review was conducted by searching Medline (PubMed) using the following MeSH terms: familial hypercholesterolemia, diagnostic techniques, prevalence. Results and conclusion: Eleven articles that met the inclusion criteria were analysed. Heterozygous familial hypercholesterolemia has a prevalence of 1:200-300 people, while the homozygous form affects 1:17,000-400,000 individuals. Diagnostic methods include biochemical criteria (LDL-C >190 mg/dL in adults, >160 mg/dL in children for heterozygotes), genetic criteria (mutations in LDLR, APOB, PCSK9, LDLRAP1) and clinical criteria (Dutch Lipid Clinic Network, Simon Broome, MEDPED criteria). Family cascade screening has proven highly effective in detecting new cases. Familial hypercholesterolemia is an underdiagnosed condition that requires the implementation of combined diagnostic strategies.
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Alonso Merchán A, Ruiz ÁJ, Campo R, Prada CE, Toro JM, Sánchez R, et al. Hipercolesterolemia familiar: artículo de revisión. Rev Col Cardiol. 2016;23(5):415-428.
Roa A, Carrasco P, Toscano C, Arrobas T. Particularidades genéticas y bioquímicas de la hipercolesterolemia familiar en el suroeste de la Península Ibérica. Clínica de Investigación en Asterioclerosis. 2021;33:62-9.
Brandts J, Ray KK. Familial Hypercholesterolemia. J Am Coll Cardiol. 2021;78(18):1831-43.
Civeira F, Ros E, Jarauta E, Plana N, Zambon D, Puzo J, et al. Comparison of Genetic Versus Clinical Diagnosis in Familial Hypercholesterolemia. Am J Cardiol. 2008;102(9):1187-1193.e1.
Lama JA. Importancia clínica de la hipercolesterolemia. Rev méd Chile. 2002;130(3):341-343.
Chang Calderin O, Figueredo Villa K, Murillo Pulgar TJ. Hipercolesterolemia en el adulto mayor. Rev cuba med gen integr. 2020;36(3).
Nohara A, Tada H, Ogura M, Okazaki S, Ono K, Shimano H, et al. Homozygous Familial Hypercholesterolemia. J Atheroscler Thromb. 2021;28(7):665-78.
Banderali G, Capra ME, Biasucci G, Stracquadaino R, Viggiano C, Pederiva C. Detecting Familial hypercholesterolemia in children and adolescents: potential and challenges. Ital J Pediatr. 2022;48(1):115.
Cohen H, Stefanutti C. Current Approach to the Diagnosis and Treatment of Heterozygote and Homozygous FH Children and Adolescents. Curr Atheroscler Rep. 2021;23(6):30.
Iatan I, Akioyamen LE, Ruel I, Guerin A, Hales L, Coutinho T, et al. Sex differences in treatment of familial hypercholesterolaemia: a meta-analysis. Eur Heart J. 2024;45(35):3231-50.
Wang M, Jiang S, Li B, Parkinson B, Lu J, Tan K, et al. Synthesized economic evidence on the cost-effectiveness of screening familial hypercholesterolemia. Glob Health Res Policy. 2024;9(1):38.
Polanski A, Wolin E, Kocher M, Zierhut H. A scoping review of interventions increasing screening and diagnosis of familial hypercholesterolemia. Genet Med. 2022;24(9):1791-802.
Qureshi N, Da Silva MLR, Abdul-Hamid H, Weng SF, Kai J, Leonardi-Bee J. Strategies for screening for familial hypercholesterolaemia in primary care and other community settings. Cochrane Database Syst Rev. 2021;2021(10).
Chen L, Peng H, Wang BL, Yu WY, Ding XH, Gao MX, et al. Trends and hotspots in familial hypercholesterolemia: A bibliometric systematic review from 2002 to 2022. Medicine (Baltimore). 2023;102(28):e34247.
Gouni-Berthold I, Laufs U. Special aspects of cholesterol metabolism in women. Dtsch Ärztebl Int. 2024.
Mehta R, Martagon AJ, Galan Ramirez GA, Antonio-Villa NE, Vargas-Vázquez A, Elias-Lopez D, et al. Familial hypercholesterolemia in Mexico: Initial insights from the national registry. J Clin Lipidol. 2021;15(1):124-33.
Stoll M. Genética de la hipercolesterolemia familiar. Rev Urug Cardiol. 2019;34(3).
Merchán A, Ruiz ÁJ, Campo R, Prada CE, Toro JM, Sánchez R, et al. Hipercolesterolemia familiar: artículo de revisión. Rev Colomb Cardiol. 2016;23:4-26.
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