Homozygous familial hypercholesterolemia with valvulopathy
نویسندگان
چکیده
منابع مشابه
Patient 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 کاملHomozygous 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 with generalized arterial disease.
OBJECTIVE This report describes the clinical features and management of an 11-year-old boy with end-stage homozygous familial hypercholesterolemia (hoFH) and generalized arterial disease. CLINICAL PRESENTATION AND INTERVENTION The patient presented with recurrent anginal episodes. On examination, he was found to have multiple planar and tendinous xanthomas, an (LDL) cholesterol level of 24.6 ...
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...
متن کاملSupravalvular aortic stenosis in homozygous familial hypercholesterolemia.
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: Journal of Clinical and Preventive Cardiology
سال: 2019
ISSN: 2250-3528
DOI: 10.4103/jcpc.jcpc_26_18