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Pathophys and Cause ⬇

Cause:Genetic or diabetics, autosomal recessive (Nejm 1991;324:1761)

Pathophys:Lipoprotein lipase deficiency causes an increase in chylomicrons, not lysed by heparin (PHLA)

Epidemiology ⬆ ⬇

Rare except in Quebec French Canadians, 1/40 of whom have the gene; overall the gene prevalence is 1/500 (Nejm 1991;324:1761)

Signs and Symptoms ⬆ ⬇

Sx:Recurrent abdominal pain (old surgical scars); early life onset (months old to age 10 yr)

Si:Lipemia retinalis (picture—Nejm 1999;340:1969); hepatosplenomegaly; eruptive xanthomata (pimple-like correlate with chylomicrons)

Course ⬆ ⬇

Complete reversal with rx

Complications ⬆ ⬇

Pancreatitis; possibly ASHD (Nejm 1996;335:848)

Lab and Xray ⬆ ⬇

Lab: Chem:Cholesterol may be increased; total cholesterol/HDL ratio <4.5. Triglyceride >1000 mg %, often >1500 mg %; supranate milky; infranate clear; post-heparin lipolytic activity low

Treatment ⬆

Rx:

Diet, low fat (<20% of calories); stop alcohol; avoid estrogens and cholesterol binders, which worsen

Gemfibrozil or clofibrate, or niacin if sx