Malattia a trasmissione autosomica dominante da alterazione del metabolismo delle lipoproteine che si manifesta nell'eta adulta con la combinazione di ipercolesterolemia e ipertrigliceridemia. Il disturbo e caratterizzato dalla presenza di un'aumentata concentrazione di apolipoproteina B nel plasma e aterosclerosi coronarica precoce (Dorland's Illustrated Medical Dictionary, 29th Edition).

Gli individui affetti presentano concentrazioni aumentate nel sangue di colesterolo e di trigliceridi. Possono presentarsi con un'ipertrigliceridemia severa. Questo disturbo e caratterizzato dall'aumento nel plasma di VLDL, LDL o di entrambe. Il pattern lipoproteico del paziente puo modificarsi nel tempo. Gli xantomi sono rari. Gli individui affetti sviluppano una coronaropatia precoce. L'iperlipidemia combinata familiare (inclusi gli eterozigoti) colpisce l'1-2% della popolazione delle societa occidentali (OMIM).

Il difetto alla base non e conosciuto anche se, in alcune famiglie, mutazioni o polimorfismi nel gene delle lipoproteine e nel cluster genetico dell'apo AI, apo CII e dell'apo AIV possono contribuire allo sviluppo della malattia. I pattern lipoproteici associati con il disturbo sono con molta probabilita determinati da polimorfismi genetici nei geni che regolano il metabolismo delle VLDL. E' trasmessa con modalita autosomica dominante. (Harrisons's, Principles of Internal Medicine, 15th Edition).

Terapia farmacologica ipolipemizzante.

Eckel,-R-H
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Arterioscler-Thromb-Vasc-Biol. 2001 Apr; 21(4): 469-70

Purnell,-J-Q; Kahn,-S-E; Schwartz,-R-S; Brunzell,-J-D
Relationship of insulin sensitivity and ApoB levels to intra-abdominal fat in subjects with familial combined hyperlipidemia.
Arterioscler-Thromb-Vasc-Biol. 2001 Apr; 21(4): 567-72

Ylitalo,-K; Pajukanta,-P; Meri,-S; Cantor,-R-M; Mero-Matikainen,-N; Vakkilainen,-J; Nuotio,-I; Taskinen,-M-R
Serum C3 but not plasma acylation-stimulating protein is elevated in Finnish patients with familial combined hyperlipidemia.
Arterioscler-Thromb-Vasc-Biol. 2001 May; 21(5): 838-43

Pihlajamaki,-J; Valve,-R; Karjalainen,-L; Karhapaa,-P; Vauhkonen,-I; Laakso,-M
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Eur-J-Clin-Invest. 2001 Apr; 31(4): 302-8

Keulen-ETP; Voors-Pette-C; de-Bruin-TWA Familial dyslipidemic hypertension syndrome: Familial combined hyperlipidemia, and the role of abdominal fat mass
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Groenendijk,-M; Cantor,-R-M; De-Bruin,-T-W; Dallinga-Thie,-G-M
New genetic variants in the apoA-I and apoC-III genes and familial combined hyperlipidemia.
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Demacker,-P-N; Veerkamp,-M-J; Bredie,-S-J; Marcovina,-S-M; de-Graaf,-J; Stalenhoef,-A-F Comparison of the measurement of lipids and lipoproteins versus assay of apolipoprotein B for estimation of coronary heart disease risk: a study in familial combined hyperlipidemia.
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Ascaso,-J-F; Real,-J-T; Merchante,-A; Rodrigo,-A; Carmena,-R
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Voors-Pette,-C; de-Bruin,-T-W Excess coronary heart disease in Familial Combined Hyperlipidemia, in relation to genetic factors and central obesity.
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Pajukanta,-P; Porkka,-K-V
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van-Greevenbroek,-M-M; van-der-Kallen,-C-J; Geurts,-J-M; Janssen,-R-G; Buurman,-W-A; de-Bruin,-T-W
Soluble receptors for tumor necrosis factor-alpha (TNF-R p55 and TNF-R p75) in familial combined hyperlipidemia.
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Geurts,-J-M; Janssen,-R-G; van-Greevenbroek,-M-M; van-der-Kallen,-C-J; Cantor,-R-M; Bu,-X; Aouizerat,-B-E; Allayee,-H; Rotter,-J-I; de-Bruin,-T-W
Identification of TNFRSF1B as a novel modifier gene in familial combined hyperlipidemia.
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Hoffer,-M-J; Snieder,-H; Bredie,-S-J; Demacker,-P-N; Kastelein,-J-J; Frants,-R-R; Stalenhoef,-A-F
The V73M mutation in the hepatic lipase gene is associated with elevated cholesterol levels in four Dutch pedigrees with familial combined hyperlipidemia.
Atherosclerosis. 2000 Aug; 151(2): 443-50

Pihlajamaki,-J; Miettinen,-R; Valve,-R; Karjalainen,-L; Mykkanen,-L; Kuusisto,-J; Deeb,-S; Auwerx,-J; Laakso,-M
The Pro12A1a substitution in the peroxisome proliferator activated receptor gamma 2 is associated with an insulin-sensitive phenotype in families with familial combined hyperlipidemia and in nondiabetic elderly subjects with dyslipidemia.
Atherosclerosis. 2000 Aug; 151(2): 567-74

Coon,-H; Myers,-R-H; Borecki,-I-B; Arnett,-D-K; Hunt,-S-C; Province,-M-A; Djousse,-L; Leppert,-M-F
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