P41 Pharmacokinetics-based estimation of evolocumab dosing for homozygous familial hypercholesterolemia (HoFH) in patients aged 6 to 12 years old
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چکیده
منابع مشابه
Homozygous familial hypercholesterolemia (HoFH) in Germany: an epidemiological survey
INTRODUCTION In Europe a disease is recognized as rare if less than 1 in 2000 people suffer from the specific disease. In patients with familial homozygous hypercholesterolemia (HoFH) the accumulation of low-density lipoprotein cholesterol (LDL-C) leads to generalized atherosclerosis due to an insufficient functioning of the LDL-C receptors. Patients die early sometimes even in the mid-30s, fro...
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 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: Archives of Disease in Childhood
سال: 2020
ISSN: 0003-9888,1468-2044
DOI: 10.1136/archdischild-2020-nppg.50