Severe xanthomatosis in heterozygous familial hypercholesterolemia

Journal of Clinical Lipidology
Sumayah AljenedilJacques Genest

Abstract

Familial hypercholesterolemia is a genetic lipoprotein disorder characterized by elevated plasma low-density lipoprotein cholesterol level, (tendinous xanthomas, xanthelasmas, and premature arcus corneus) and early onset atherosclerotic cardiovascular disease. Familial hypercholesterolemia is caused by mutations in the low-density lipoprotein receptor, apolipoprotein B or proprotein convertase subtilisin/kexin type 9 genes. Rare mutations in low-density lipoprotein receptor adapter protein 1, APOE p.Leu167del or lysosomal acid lipase genes can mimic FH. The prevalence of heterozygous familial hypercholesterolemia is estimated to be 1/250 worldwide, although some populations with founder effects show a higher prevalence. The rare homozygous form has an estimated prevalence of 0.000004 or 1/250,000 and is characterized by markedly elevated low-density lipoprotein cholesterol, skin manifestations (planar xanthomas, tendinous xanthomas) in childhood and extremely premature atherosclerotic cardiovascular disease. While tendinous xanthomas are considered pathognomonic for familial hypercholesterolemia, they can also be found in rare diseases, including sitosterolemia. Here, we report a case of severe tendinous xanthomatosis with hete...Continue Reading

Citations

Oct 22, 2019·IUBMB Life·Eskandar TaghizadehAmirhossein Sahebkar
Jun 23, 2019·Current Cardiology Reports·Ricardo SteinFernando Scolari
Nov 28, 2020·Frontiers in Cardiovascular Medicine·Yan-Yan LiXin-Zheng Lu
Aug 4, 2020·Journal of cardiology·Loukianos S RallidisEfstathios Iliodromitis

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