Clinical Criteria Versus DNA Diagnosis in Heterozygous Familial Hypercholesterolemia
نویسندگان
چکیده
منابع مشابه
Clinical criteria versus DNA diagnosis in heterozygous familial hypercholesterolemia: Is molecular diagnosis superior to clinical diagnosis?
More than half of all deaths in Western society are related to arteriosclerotic cardiovascular diseases. Approximately 5% of coronary artery disease (CAD) before the age of 55 years is attributable to familial hypercholesterolemia (FH), an autosomal-dominant disease. In contrast to population hypercholesterolemia, FH typically leads to a twice-normal LDL cholesterol level for age and sex and to...
متن کاملDiagnosis of heterozygous familial hypercholesterolemia. DNA analysis complements clinical examination and analysis of serum lipid levels.
The concordance of clinical and molecular genetic diagnoses of heterozygous familial hypercholesterolemia (FH) was studied in 65 subjects (10 propositi and 55 first-degree relatives) from 10 families with FH. Nine propositi were carriers of the FH-Helsinki deletion of the low density lipoprotein (LDL) receptor gene, prevalent in the Finnish population, while a new deletion, extending from intro...
متن کاملHeterozygous Familial Hypercholesterolemia.
Familial hypercholesterolemia (FH) is a genetic condition that causes high low-density lipoprotein (LDL) cholesterol (sometimes referred to as bad cholesterol) from birth. FH means high cholesterol that runs in a family. FH is caused by specific DNA changes that are passed on from parents to their children. It is not caused by lifestyle factors such as a high-fat diet or lack of exercise. There...
متن کاملMulticenter study to determine the diagnosis criteria of heterozygous familial hypercholesterolemia in Japan.
AIM Heterozygous patients of familial hypercholesterolemia (FH) are known to have a high risk of coronary artery disease (CAD). Early diagnosis and prompt treatment are necessary to prevent their CAD. In this study we tried to amend the Japanese diagnostic criteria of FH for general practitioners by examining each component of the current criteria. METHODS A multicenter study was performed, w...
متن کاملMolecular Diagnosis of Familial Hypercholesterolemia
Abstract Background and objectives: Familial hypercholesterolemia (FH) is an autosomal disorder characterized by increased levels of total cholesterol and low density lipoprotein cholesterol. The FH clinical phenotype has been associated with increased risk of coronary heart disease and premature death. The mutation in LDLR gene in most cases is responsible for FH phenotype. Furthermore, other ...
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ژورنال
عنوان ژورنال: Arteriosclerosis, Thrombosis, and Vascular Biology
سال: 1998
ISSN: 1079-5642,1524-4636
DOI: 10.1161/01.atv.18.3.331