“Does apolipoprotein E (Apo E) epsilon 4 allele modulate the familial combined hyperlipidemia expression?”

Background: Familial combined hyperlipemia (FCHL, MIM 144250) is one of the most inherited lipid disorder predisposing to progressive vascular degeneration. Its genetic and metabolic basis are at present unknown, although extensively examined. Increase in total colesterol, triglyceride or both is the main biochemical marker in the affected patients. It is considered an adulthood disease as it could be silent for years till but paediatric presentation. Furthermore, the role of apolipoprotein E in lipid clearence is accepted even if its involvment in FCHL is poorly defined. Aim: ApoE2,E3,E4 alleles in FCHL patients Methods:140 probands from FCHL kindreds:101 adults and 39 children.1. diagnosis base on classical recognized parameters 2.apoE isoforms diagnosed by DNA RFLP after cleavage. Results: The ApoE allele E4 frequency in FCHL is 20.3% vs 9.5% in the control group. E2 and E3 frequencies are 11.7 and 68% in patients vs 8.5 and 83% in controls. Conclusions: Among probands <20 yrs old 32/39 (70%) were FCH affected thus confirming the efficacy of a selective screening in the paediatric age. A significant association between ApoE4 in FCHL proband can contribute to develop the phenotype expression.