An unusual case of familial hyperlipidaemia

A 40 days old male baby born to a consanguineous couple was found to have highly viscous and milky serum with caking of chylomicrons on refrigeration of serum. Cholesterol was 889.5 mg/dl (23.04mmol/L) and Triglycerides 12881 mg/dl (141.69mmol/L). He was active and did not have any hepatospleenomegaly, xanthomas or dysmorphic features. Thyroid functions were normal. Lipid electrophoresis showed thick chylomicron band. There was positive family history of hypertriglyceridemia in a first cousin. Both siblings and both parents of the index case had normal lipid profiles. This child was referred to higher centre where he was put on Lipid lowering drugs (Gemfibrozil), Iron drops and special formula for feeding containing medium chain fatty acids.