title: Severely elevated serum triglycerides in a case of heterozygous familial hypercholesterolemia with the 317 cysteine to serine mutation in the LDL receptor gene.
abstract: We present a case of a 43-year-old Japanese man with heterozygous familial hypercholesterolemia (FH) with severely elevated serum triglycerides (TG). He drank large quantities of alcohol but had no endocrinological disorder or diabetes mellitus. He had a recurrent, acute pancreatitis. His fasting serum total cholesterol (TC), TG, and HDL-C levels and an apolipoprotein E genotype of E3/E3 suggested a diagnosis of type V hyperlipidemia. Yet, the patient had bilateral Achilles tendinous xanthomata, which prompted us to conduct a gene analysis for the LDL receptor, and this revealed the heterozygous form of the 317 cysteine to serine mutation, demonstrating that this was a case of FH. We recommend that physicians consider the existence of FH, even in hyperlipidemic subjects with lipid profiles far from those typical of FH, whenever a patient has tendinous xanthomata.
authors.affiliation: Department of Internal Medicine, Kanazawa University Graduate School of Medical Science, 13-1 Takara-machi, Kanazawa, Ishikawa 920-8640, Japan.
authors.forename: Junji
authors.initials: J
authors.lastname: Kobayashi
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Mabuchi