Teams from the Genetics and Molecular Cardiology Laboratory and the Lipids Clinical Unit of the Heart Institute (Incor) of the University of São Paulo (USP) have begun mapping the Brazilian population for genetic alterations that contribute to maintaining high blood levels of LDL cholesterol. The group’s goal is to identify cases in which these changes are inherited and to begin treatment with cholesterol-lowering drugs as soon as possible. Thus, the researchers hope to prevent the development of cardiovascular problems such as heart attacks, and reduce public health costs. “The sooner these people have access to health care, the better,” says José Eduardo Krieger, the study’s coordinator. “So we hope to prevent their intake into the system from occurring only after the first heart attack.” Since the project began four years ago, in partnership with the Samaritan Hospital of São Paulo through a Ministry of Health program, researchers have identified 489 people with elevated LDL cholesterol of genetic origin, the so-called familial hypercholesterolemia. Of this total, 172 people exhibited alterations—76 new mutations were found—in one of the three genes known to be linked to increased cholesterol. When they identified a case of familial hypercholesterolemia, the researchers offered to examine the first-degree relatives. Of the 808 relatives tested, half had mutations that raise the level of cholesterol. The research began with Incor patients and is now open to the entire population. “We want to see if we can treat these people earlier and change the natural course of the disease,” says Krieger. “It’s an example of preemptive medicine.”
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