Workshop I-4 - Genetics: Familial Hyperlipidemia Abstract: 45 Citation: Atherosclerosis Supplement 2009, Vol. 10, Issue 2
CVD RISK ASSOCIATED WITH FAMILIAL LIPID DISORDERS P Hopkins University of Utah Defining the CVD risk associated with heterozygous familial hypercholesterolemia (FH) is important for public health planning and appropriate allocation of resources. Results from recent observational studies suggest much higher relative risk for CAD death and total mortality in younger FH subjects while in older FH, mortality seems to decline markedly. These observations suggest either a survival selection process or improved treatment and prevention efforts in older FH subjects and a need for much earlier initiation of vigorous preventive efforts. Risk appears greatly reduced in statin-treated FH patients. Standard CAD risk factors seem to operate in FH subjects as in other persons. However, stroke may not be increased at all in FH and testing of surrogate markers, particularly carotid IMT, may be problematic. Type III hyperlipidemia is another reasonably well-defined genetic hyperlipidemia leading to elevated CAD risk, but population-based estimates of that risk have only recently been provided in a large case-control study from our group. Interestingly however, FH patients with type III hyperlipidemia do not have CAD risk in excess of other FH patients. CAD risk may not be increased in carriers of ABCA1 defects. To appropriately asses CVD risk associated with familial combined hyperlipidemia (FCHL), patients with FH and type III must first be excluded. In the only population-based estimate of CAD risk in FCHL, the relative risk was surprisingly modest and similar to persons with familial hypertriglyceridemia and consistent with risk associated with the at-risk allele of USF1 (Upstream Stimulatory Factor-1). Most had metabolic syndrome (MetS) and associated CAD risk was subsumed by MetS.