Xanthoma tuberosum in homozygous familial hypercholesterolemia
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 کاملFamilial hypercholesterolemia presenting as intracranial xanthoma.
A 22 years female who was diagnosed as having cholestseatoma of right ear was referred to us for medical fitness. On examination she incidentally had evidence of tuberous and tendon xanthomas. She was found to have hypercholesterolemia. On mastoid exploration a yellowish groomous mass was seen which was surrounded by foamy macrophages, suggestive of 'mastoid xanthoma'. The purpose of this case ...
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...
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: Annals of Pediatric Cardiology
سال: 2014
ISSN: 0974-2069
DOI: 10.4103/0974-2069.132479