Phenotypic Variation in Heterozygous Familial Hypercholesterolemia
نویسندگان
چکیده
منابع مشابه
Heterozygous 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 کاملSkin manifestations in familial heterozygous hypercholesterolemia.
Familial hypercholesterolemia, a form of primary hyperlipoproteinemia, is an autosomal dominant disorder characterized by an increase in serum LDL cholesterol concentrations. Multiple types of xanthomas occur, such as tendinous, tuberous, subperiosteal, and xanthelasma. Intertriginous xanthomas are rare, but if present are pathognomonic in this disorder. We report a patient with multiple xantho...
متن کاملGenetic Testing for Heterozygous Familial Hypercholesterolemia
Patient Selection Criteria Coverage eligibility for genetic testing to confirm a diagnosis of familial hypercholesterolemia (FH) will be met when: Genetic testing is targeted to individuals who are in an uncertain category according to clinical criteria (personal and family history, physical exam, lipid levels), AND Alternative treatment considerations are in place for individuals who have ...
متن کاملGenetic Testing for Heterozygous Familial Hypercholesterolemia
Genetic testing to confirm a diagnosis of familial hypercholesterolemia (FH) may be considered MEDICALLY NECESSARY when a definitive diagnosis is required as an eligibility criterion for specialty medications and when the following criteria are met: Genetic testing is targeted to individuals who are in an uncertain category according to clinical criteria (personal and family history, physical...
متن کاملCompound heterozygous familial hypercholesterolemia and familial defective apolipoprotein B-100 produce exaggerated hypercholesterolemia.
BACKGROUND Familial hypercholesterolemia (FH) and familial defective apolipoprotein B-100 (FDB) represent ligand-receptor disorders that are complementary. Individuals with both FH and FDB are unusual. We report a family with both disorders and the impact of the mutations on the phenotypes of the family members. METHODS We used single strand conformation polymorphism (SSCP) and denaturing gra...
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ژورنال
عنوان ژورنال: Arteriosclerosis, Thrombosis, and Vascular Biology
سال: 1998
ISSN: 1079-5642,1524-4636
DOI: 10.1161/01.atv.18.2.309