TENDON AND TUBEROUS XANTHOMAS, A CLINICAL SIGN OF FAMILIAL HYPERCHOLESTEROLEMIA
نویسندگان
چکیده
منابع مشابه
Cutaneous Xanthomas in a Young Child: Familial Hypercholesterolemia
A 6‐year‐old, non‐obese girl presented to the paediatrics outpatient department with a history of multiple, yellowish plaques, papules, and nodules over the body for past 1 year with a gradual increase in size. These lesions involved the bilateral elbow, knee, knuckle, lateral malleolus, gluteal region, and left upper eyelid and were associated with itching [Figure 1a‐d]. The nodules over the k...
متن کاملFamilial 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 کاملTuberous Xanthomatosis as a Presentation of Familial Hypercholesterolemia
Xanthomas are localized lipid deposits within organs that may manifest as papules, plaques, or nodules in skin. The subtype of xanthoma provides a clue to the underlying lipid abnormality. Accurate diagnosis of xanthomas is important because it can lead to the identification and treatment of underlying disease. Xanthomas associated with familial hypercholesterolemia are an exception. In patient...
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 کاملTendon xanthomas in familial hypercholesterolemia are associated with cardiovascular risk independently of the low-density lipoprotein receptor gene mutation.
OBJECTIVE To investigate the significance of tendon xanthomas (TX) in heterozygous subjects with familial hypercholesterolemia (hFH). METHODS AND RESULTS 951 men and women with genetic diagnosis of hFH were studied, of whom 278 (29.2%) presented TX. TX frequency increased with age from 6.9% in subjects 20 to 30 years to 38.3% at 51 to 60 years, with a decrease in those older than 60 years. To...
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ژورنال
عنوان ژورنال: Journal of Evidence Based Medicine and Healthcare
سال: 2015
ISSN: 2349-2562,2349-2570
DOI: 10.18410/jebmh/2015/270