Genetic high cholesterol is underdiagnosed and undertreated, according to research presented on September 1, 2019 at the ESC (European Society of Cardiology) Congress 2019 together with the World Congress of Cardiology in Paris, France (August 31-September 4). The presentation abstract was titled "Prevalence and Severity of Coronary Disease In Patients with Familial Hypercholesterolemia Hospitalized for an Acute Myocardial Infarction: Data from the RICO Survey.” Screening could identify patients and family members affected by the condition so that lifestyle changes and treatments can be started to prevent heart attack and stroke. Heterozygous familial hypercholesterolaemia (FH) is a life-threatening genetic condition linked with a high risk of premature cardiovascular disease, including heart attack and stroke. FH is one of the most common potentially fatal family disorders, with a prevalence estimated at 1/250 to 1/200, corresponding to 3.6 to 4.5 million individuals in Europe. Patients with FH have high levels of "bad" cholesterol (low-density lipoprotein; LDL) due to a mutation in genes that clear cholesterol from the body. LDL particles accumulate in the blood and can ultimately build up in the coronary artery walls. Children of patients with heterozygous FH have a 50% chance of inheriting the disorder. As LDL cholesterol levels are elevated as early as birth, the risk of heart attack in patients with FH is 10 to 13 times greater than that of the general population. Elevated LDL cholesterol plus family or personal history of early heart disease are key criteria for diagnosis, which may be confirmed by genetic testing. Management of FH includes a healthy lifestyle and medication.
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