Goldstein JL, Schrott HG, Hazzard WR, Bierman EL, Motulsky AG. Hyperlipidemia in coronary heart disease. II. Genetic analysis of lipid levels in 176 families and delineation of a new inherited disorder, combined hyperlipidemia. J Clin Invest. 1973;52(7):1544–68.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Rose HG, Kranz P, Weinstock M, Juliano J, Haft JI. Inheritance of combined hyperlipoproteinemia: evidence for a new lipoprotein phenotype. Am J Med. 1973;54(2):148–60.

Article  CAS  PubMed  Google Scholar 

Nikkilä EA, Aro A. Family study of serum lipids and lipoproteins in coronary heart-disease. Lancet. 1973;1(7810):954–9.

Article  PubMed  Google Scholar 

Pitkänen OP, Nuutila P, Raitakari OT, Porkka K, Iida H, Nuotio I, et al. Coronary flow reserve in young men with familial combined hyperlipidemia. Circulation. 1999;99(13):1678–84.

Article  PubMed  Google Scholar 

Voors-Pette C, de Bruin TW. Excess coronary heart disease in familial combined hyperlipidemia, in relation to genetic factors and central obesity. Atherosclerosis. 2001;157(2):481–9.

Article  CAS  PubMed  Google Scholar 

Brahm AJ, Hegele RA. Combined hyperlipidemia: familial but not (usually) monogenic. Curr Opin Lipidol. 2016;27(2):131–40.

Article  CAS  PubMed  Google Scholar 

Dron JS, Hegele RA. Genetics of hypertriglyceridemia. Front Endocrinol (Lausanne). 2020;11:455.

Article  PubMed  Google Scholar 

Brouwers MCGJ, Bilderbeek-Beckers MAL, Georgieva AM, van der Kallen CJH, van Greevenbroek MMJ, de Bruin TWA. Fatty liver is an integral feature of familial combined hyperlipidaemia: relationship with fat distribution and plasma lipids. Clin Sci (Lond). 2007;112(2):123–30.

Article  CAS  PubMed  Google Scholar 

Brouwers MCGJ, Cantor RM, Kono N, Yoon JL, van der Kallen CJH, Bilderbeek-Beckers MAL, et al. Heritability and genetic loci of fatty liver in familial combined hyperlipidemia. J Lipid Res. 2006;47(12):2799–807.

Article  CAS  PubMed  Google Scholar 

Brouwers MCGJ, de Graaf J, Simons N, Meex S, Ten Doeschate S, van Heertum S, et al. Incidence of type 2 diabetes in familial combined hyperlipidemia. BMJ Open Diabetes Res Care. 2020;8(1):e001107.

Article  PubMed  PubMed Central  Google Scholar 

Janus ED, Nicoll AM, Turner PR, Magill P, Lewis B. Kinetic bases of the primary hyperlipidaemias: studies of apolipoprotein B turnover in genetically defined subjects. Eur J Clin Invest. 1980;10(2 Pt 1):161–72.

Article  CAS  PubMed  Google Scholar 

Ribalta J, La Ville AE, Vallvé JC, Humphries S, Turner PR, Masana L. A variation in the apolipoprotein C-III gene is associated with an increased number of circulating VLDL and IDL particles in familial combined hyperlipidemia. J Lipid Res. 1997;38(6):1061–9.

Article  CAS  PubMed  Google Scholar 

Chait A, Albers JJ, Brunzell JD. Very low density lipoprotein overproduction in genetic forms of hypertriglyceridaemia. Eur J Clin Invest [Internet]. 1980;10(1):17–22.

Article  CAS  PubMed  Google Scholar 

Castro Cabezas M, de Bruin TW, de Valk HW, Shoulders CC, Jansen H, Willem Erkelens D. Impaired fatty acid metabolism in familial combined hyperlipidemia. A mechanism associating hepatic apolipoprotein B overproduction and insulin resistance. J Clin Invest. 1993;92(1):160–8.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ascaso JF, Merchante A, Lorente RI, Real JT, Martinez-Valls J, Carmena R. A study of insulin resistance using the minimal model in nondiabetic familial combined hyperlipidemic patients. Metabolism. 1998;47(5):508–13.

Article  CAS  PubMed  Google Scholar 

Aitman TJ, Godsland IF, Farren B, Crook D, Wong HJ, Scott J. Defects of insulin action on fatty acid and carbohydrate metabolism in familial combined hyperlipidemia. Arterioscler Thromb Vasc Biol. 1997;17(4):748–54.

Article  CAS  PubMed  Google Scholar 

Castro Cabezas M, Erkelens DW, Kock LA, De Bruin TW. Postprandial apolipoprotein B100 and B48 metabolism in familial combined hyperlipidaemia before and after reduction of fasting plasma triglycerides. Eur J Clin Invest. 1994;24(10):669–78.

Article  CAS  PubMed  Google Scholar 

Castro Cabezas M, de Bruin TW, Jansen H, Kock LA, Kortlandt W, Erkelens DW. Impaired chylomicron remnant clearance in familial combined hyperlipidemia. Arterioscler Thromb. 1993;13(6):804–14.

Article  Google Scholar 

Genest J, Sniderman A, Cianflone K, Teng B, Wacholder S, Marcel Y, et al. Hyperapobetalipoproteinemia. Plasma lipoprotein responses to oral fat load. Arteriosclerosis. 1986;6(3):297–304.

Article  CAS  PubMed  Google Scholar 

Verseyden C, Meijssen S, van Dijk H, Jansen H, Castro CM. Effects of atorvastatin on fasting and postprandial complement component 3 response in familial combined hyperlipidemia. J Lipid Res. 2003;44(11):2100–8.

Article  CAS  PubMed  Google Scholar 

Meijssen S, Castro Cabezas M, Twickler TB, Jansen H, Erkelens DW. In vivo evidence of defective postprandial and postabsorptive free fatty acid metabolism in familial combined hyperlipidemia. J Lipid Res. 2000;41(7):1096–102.

Article  CAS  PubMed  Google Scholar 

Sniderman AD, Cianflone K, Arner P, Summers LK, Frayn KN. The adipocyte, fatty acid trapping, and atherogenesis. Arterioscler Thromb Vasc Biol. 1998;18(2):147–51.

Article  CAS  PubMed  Google Scholar 

Cianflone KM, Maslowska MH, Sniderman AD. Impaired response of fibroblasts from patients with hyperapobetalipoproteinemia to acylation-stimulating protein. J Clin Invest. 1990;85(3):722–30.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Halkes CJ, van Dijk H, de Jaegere PP, Plokker HW, van Der Helm Y, Erkelens DW, et al. Postprandial increase of complement component 3 in normolipidemic patients with coronary artery disease: effects of expanded-dose simvastatin. Arterioscler Thromb Vasc Biol. 2001;21(9):1526–30.

Article  CAS  PubMed  Google Scholar 

Halkes CJM, van Dijk H, Verseyden C, de Jaegere PPT, Plokker HWM, Meijssen S, et al. Gender differences in postprandial ketone bodies in normolipidemic subjects and in untreated patients with familial combined hyperlipidemia. Arterioscler Thromb Vasc Biol. 2003;23(10):1875–80.

Article  CAS  PubMed  Google Scholar 

Marcil M, Vu H, Cui W, Dastani Z, Engert JC, Gaudet D, et al. Identification of a novel C5L2 variant (S323I) in a French Canadian family with familial combined hyperlipemia. Arterioscler Thromb Vasc Biol. 2006;26(7):1619–25.

Article  CAS  PubMed  Google Scholar 

Klop B, van der Pol P, van Bruggen R, Wang Y, de Vries MA, van Santen S, et al. Differential complement activation pathways promote C3b deposition on native and acetylated LDL thereby inducing lipoprotein binding to the complement receptor 1. J Biol Chem. 2014;289(51):35421–30.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Pihlajamäki J, Karjalainen L, Karhapää P, Vauhkonen I, Laakso M. Impaired free fatty acid suppression during hyperinsulinemia is a characteristic finding in familial combined hyperlipidemia, but insulin resistance is observed only in hypertriglyceridemic patients. Arterioscler Thromb Vasc Biol. 2000;20(1):164–70.

Article  PubMed  Google Scholar 

Karjalainen L, Pihlajamäki J, Karhapää P, Laakso M. Impaired insulin-stimulated glucose oxidation and free fatty acid suppression in patients with familial combined hyperlipidemia: a precursor defect for dyslipidemia? Arterioscler Thromb Vasc Biol. 1998;18(10):1548–53.

Article  CAS  PubMed  Google Scholar 

Reynisdottir S, Angelin B, Langin D, Lithell H, Eriksson M, Holm C, et al. Adipose tissue lipoprotein lipase and hormone-sensitive lipase. Contrasting findings in familial combined hyperlipidemia and insulin resistance syndrome. Arterioscler Thromb Vasc Biol. 1997;17(10):2287–92.

Article  CAS