Cause:Genetic, autosomal dominant

Pathophys:Elevated chylomicrons and VLDL; a combination of types I and IV characteristics; fat- and carbohydrate-induced, ie, a type IV with a relative lipoprotein lipase deficiency from increased VLDL synthesis by the liver so that dietary triglyceride more easily overwhelms it

Associated with diabetes, hyperuricemia, alcohol use; rare

Sx:"Pimples," recurrent abdominal pain

Si:Hepatosplenomegaly, lipemia retinalis (picture—Nejm 1999;340:1969), eruptive xanthomata

Pancreatitis, no MIs (debatably—Nejm 1996;335:848)

r/o other causes of elevated triglyceride including "metabolic syndrome" (Diabetes Mellitus) drugs (poor diabetic control, thiazides, BCPs, estrogens, ß-blockers, isotretinoin), burns and trauma, sepsis, SLE, MIs, glycogen storage diseases, obesity, alcohol

Lab:Chem:Cholesterol elevated; total cholesterol/HDL ratio increased; triglycerides 1000+ mg %; supranate milky; infranate cloudy; PHLA low

• Uric acid increased
• GTT abnormal (70%)