lplda.org - Familial Lipoprotein Lipase Deficiency - Symptoms, Causes, Treatment | NORD

Description: Learn about Familial Lipoprotein Lipase Deficiency, including symptoms, causes, and treatments. If you or a loved one is affected by this condition, visit

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NORD gratefully acknowledges John JP Kastelein, MD, PhD, Department of Vascular Medicine, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands, for assistance in the preparation of this report.

Familial lipoprotein lipase (LPL) deficiency is a rare genetic metabolic disorder characterized by a deficiency of the enzyme lipoprotein lipase. Deficiency of this enzyme prevents affected individuals from properly digesting certain fats and results in massive accumulation of fatty droplets called chylomicrons in the circulation (chylomicronemia) and consequently also an increase of the plasma concentration of fatty substances called triglycerides. Affected individuals often experience episodes of abdomina

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