A CASE REPORT OF HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA
نویسندگان
چکیده
منابع مشابه
Familial hypercholesterolemia: a case report
Abstract Familial hypercholesterolemia (FH) is a hereditary dislipidemia. Patients present with extremely high level of low-density lipoprotein cholesterol (LDL-C), which is due to mutation in the gene of LDL receptor. Homozygous patients (HoFH) whose incidence is 1 in 1.000.000 are at high risk of premature aortic valve stenosis, and coronary artery atherosclerosis. In homozygous individual...
متن کاملFamilial hypercholesterolemia: A case report
Familial hypercholesterolemia (FH) is a hereditary dislipidemia. Patients present with extremely high level of low-density lipoprotein cholesterol (LDL-C), which is due to mutation in the gene of LDL receptor. Homozygous patients (HoFH) whose incidence is 1 in 1.000.000 are at high risk of premature aortic valve stenosis, and coronary artery atherosclerosis. In homozygous individuals cardiov...
متن کاملHomozygous familial hypercholesterolemia: Case report and review of literature
Familial hypercholesterolemia (FH) is a genetic disease presented by high levels of serum low density lipoprotein (LDL), xanthomas and early coronary artery disease (CAD). The diagnosis of Homozygous Familial Hypercholesterolemia (HoFH) is based on a family history of elevated cholesterol, persistent high LDL levels despite maximum medical treatment and the development of xanthomas and early at...
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 کاملfamilial hypercholesterolemia: a case report
familial hypercholesterolemia (fh) is a hereditary dislipidemia. patients present with extremely high level of low-density lipoprotein cholesterol (ldl-c), which is due to mutation in the gene of ldl receptor. homozygous patients (hofh) whose incidence is 1 in 1.000.000 are at high risk of premature aortic valve stenosis, and coronary artery atherosclerosis. in homozygous individuals cardiovasc...
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ژورنال
عنوان ژورنال: Nihon Naika Gakkai Zasshi
سال: 1980
ISSN: 0021-5384,1883-2083
DOI: 10.2169/naika.69.1452