Cause:Genetic, autosomal dominant

Pathophys:Abnormal apolipoprotein E_2/2 homozygote, dysfunctional ß-lipoprotein causes an increase in VLDL remnants and chylomicrons plus other undefined factors, possibly obesity and diabetes

1/500; adults only; males > females; associated with obesity, diabetes, gout

Sx:Xanthomas and xantholasmata

Si:Tuberoeruptive and palmar xanthomata (75%); xanthelasmas (25%) (r/o diabetes, type II hyperlipidemia, and normal variant)

Poor, questionably helped by rx

ASHD with MIs

Lab:Chem:Cholesterol may be increased or normal; total cholesterol/HDL ratio <4.5; triglyceride 400-1000 mg %; supranate milky; infranate cloudy; lipoprotein electrophoresis shows broad ß slur; apolipoprotein E_2/2; PHLA normal

• Uric acid elevated (40%)
• GTT abnormal (55%)

Rx:

Diet to lose weight, stop alcohol, decrease intake to <300 mg cholesterol qd and fat <30% of calories

Nicotinic acid 2-3 gm qd works but more side effects than diet alone; or as 2nd choices, clofibrate 2 gm qd (works by increasing cholesterol in bile hence can cause gallstones) or gemfibrozil