Arq. Bras. Cardiol. 2021; 117(4): 782-844
Update of the Brazilian Guideline for Familial Hypercholesterolemia – 2021
Maria Cristina de Oliveira Izar
, Viviane Zorzanelli Rocha Giraldez
, Adriana Bertolami
, Raul Dias dos Santos Filho
, Ana Maria Lottenberg
, Marcelo Heitor Vieira Assad
, José Francisco Kerr Saraiva
, Ana Paula M. Chacra
, Tania L. R. Martinez
, Luciana Ribeiro Bahia
, Francisco Antonio Helfenstein Fonseca
, Andre Arpad Faludi, Andrei C. Sposito
, Antônio Carlos Palandri Chagas, Cinthia Elim Jannes, Cristiane Kovacs Amaral, Daniel Branco de Araújo
, Dennys Esper Cintra
, Elaine dos Reis Coutinho
, Fernando Cesena
, Hermes Toros Xavier, Isabela Cardoso Pimentel Mota
, Isabela de Carlos Back Giuliano
, José Rocha Faria Neto
, Juliana Tieko Kato
, Marcelo Chiara Bertolami
, Marcio Hiroshi Miname, Maria Helane Costa Gurgel Castelo
, Maria Sílvia Ferrari Lavrador, Roberta Marcondes Machado, Patrícia Guedes de Souza, Renato Jorge Alves, Valeria Arruda Machado, Wilson Salgado Filho
Introduction
Familial hypercholesterolemia (FH) is a common genetic cause of premature coronary artery disease (CAD), especially myocardial infarction, related to lifetime exposure to high concentrations of low-density lipoprotein cholesterol (LDL-C). It is a severe form of genetic dyslipidemia in which approximately 85% of men and 50% of women may experience a coronary event before 65 years of age if not properly treated.
FH is considered a public health problem because of the high prevalence (approximately 1:200-300 in the general population) and the association with early CAD. Reduced life expectancy was also observed in several families. In addition, nearly 200,000 people die each year worldwide from early heart attacks due to the disease, which could be prevented with appropriate treatments. If not treated, men and women with heterozygous FH will develop CAD before the ages of 55 and 60 years, respectively. Homozygotes, in turn, commonly develop CAD very early in life and, if not treated, may die before the age of 20. However, once the diagnosis is made and the treatment is initiated, the natural history of atherosclerotic disease can be changed.
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