Article
Causative mutations and premature cardiovascular disease in patients with heterozygous familial hypercholesterolaemia.
European journal of preventive cardiology - 1 Jul 2017
Rubba Paolo, Gentile Marco, Marotta Gennaro, Iannuzzi Arcangelo, Sodano Marta, De Simone Biagio, Jossa Fabrizio, Iannuzzo Gabriella, Giacobbe Carola, Di Taranto Maria D, Fortunato Giuliana
Abstract excerpt
Background Familial hypercholesterolemia is a common autosomal dominant disease, caused by mutations leading to elevated low-density lipoprotein (LDL) cholesterol and, if untreated, to premature cardiovascular disease. Methods Patients (young adults with a family history of hypercholesterolaemia or premature cardiovascular disease) with LDL cholesterol concentration ≥4.9 mmol/l, after excluding Familial Combined...
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