Homozygous Familial Hypercholesterolemia in a 3 Year Old Presenting with Multiple Xanthomas
作者
J. M. T. Thompson,J.D. Stewart
标识
DOI:10.1542/peds.141.1_meetingabstract.493
摘要
Introduction: Homozygous familial hypercholesterolemia is a rare condition characterized by markedly elevated levels of low-density lipoprotein (LDL) cholesterol and premature atherosclerotic cardiovascular disease (ASCVD). Patients with homozygous familial hypercholesterolemia often develop clinically significant ASCVD by the second decade of life. Here we report a case of homozygous familial hypercholesterolemia in a young girl who presented with xanthomas at 3 years of age. Case Report: A 3 year-old girl presented for evaluation of skin lesions. Initial …