Homozygous familial hypercholesterolemia: phenotype rules!
نویسندگان
چکیده
منابع مشابه
Homozygous familial hypercholesterolemia.
We report a rare case of homozygous familial hypercholesterolemia (HoFH), a 22-year-old Malay woman who presented initially with minor soft tissue injury due to a cycling accident. She was then incidentally found to have severe xanthelasma and hypercholesterolemia (serum TC 15.3 mmol/L and LDL-C 13.9 mmol/L). She was referred to the Specialized Lipid Clinic and was diagnosed with familial hyper...
متن کاملHomozygous Familial Hypercholesterolemia in Spain: Prevalence and Phenotype-Genotype Relationship.
BACKGROUND Homozygous familial hypercholesterolemia (HoFH) is a rare disease characterized by elevated plasma levels of low-density lipoprotein cholesterol (LDL-C) and extremely high risk of premature atherosclerotic cardiovascular disease. HoFH is caused by mutations in several genes, including LDL receptor (LDLR), apolipoprotein B (APOB), proprotein convertase subtilisin/kexin type 9 (PCSK9),...
متن کاملPatient With Homozygous Familial Hypercholesterolemia
Familial hypercholesterolemia (FH), caused by a defect in the low density lipoprotein (LDL) receptor, results in high plasma concentrations of LDL cholesterol due to both overproduction and delayed catabolism of LDL FH is also associated with significantly lower levels of plasma high density lipoprotein cholesterol and apolipoprotein (apo) A-I in both heterozygous and homozygous patients. Howev...
متن کاملCerebral cholesterol granuloma in homozygous familial hypercholesterolemia.
Familial hypercholesterolemia (FH) is characterized by the accumulation of excess cholesterol in tissues including the artery wall and tendons. We describe a patient with homozygous FH who presented with asymptomatic cholesterol granuloma of the brain. The patient's plasma low-density lipoprotein cholesterol level was remarkably responsive to combination hypolipidemic therapy with statin plus e...
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First Department of Cardiology AHEPA University Hospital 1 St. Kiriakidi St. 546 36 Thessaloniki, Greece e-mail: s_mouratoglou@ yahoo.gr
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ژورنال
عنوان ژورنال: Atherosclerosis
سال: 2016
ISSN: 0021-9150
DOI: 10.1016/j.atherosclerosis.2016.03.015