Chylomicronemia Syndrome–A Rare Metabolic Disorder of Infancy Padmaja GJ Vani*, Associate Professor, Rajyalakshmi S**, Assistant Professor, Madhavi G, Post Graduate Student, Kumar O Shravan, Professor and HOD Department of Pathology, Gandhi Medical College, Musheerabad, Secunderabad, Andhra Pradesh-500018 Corresponding Author Email: *drvanipadmaja@yahoo.co.in
**mani.makani@gmail.com
Online published on 15 May, 2014. Abstract Chylomicronemia syndrome is a disorder passed down through families in which the body does not metabolize lipids. This causes fat particles called chylomicrons to build up in the blood. It is also known as Familial lipoprotein lipase (LpL) deficiency. Chylomicronemia syndrome occurs due to a rare genetic disorder in which the enzyme LpL is broken or missing and it causes accumulation of chylomicrons. This is known as Chylomicronemia. LpL is normally found in adipose tissue and muscle. It helps in the breakdown of lipids. Symptoms may start in infancy and include: Abdominal pain due to pancreatitis, neurological symptoms, xanthomas and failure to thrive. Peripheral smear showed blasts with normocytic hypochromic anemia and thrombocytopenia and the Refrigeration test was positive. We report 3 cases of Chylomicronemia syndrome in the last 2 years. Top Keywords Abdominal colic, Chylomicronemia, Infant, Peripheral smear, Refrigeration test. Top |