An unusual case of familial hyperlipidaemia |
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| Authors: | Renu Nagar Uma Arora |
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| Institution: | (1) Department of Biochemistry, Geetanjali Medical College, Udaipur, India;(2) Christian Medical College, Ludhiana, India;(3) Department of Biochemistry, Geetanjali Medical College, Geetanjali Medicity, Udaipur, India |
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| Abstract: | 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. |
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| Keywords: | Hypertriglyceridemia Xanthomas Lipid lowering drugs |
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