Abstract
A TYPICAL CASE OF LIPOPROTEIN LIPASE (LPL) DEFICIENCY: A CASE REPORT

Syed Naveed Ali Shah, Sami UR Rehman, Anisa Azhar, Sajjad Hussain Chandio, Ayesha Sadia and *Hassan Mumtaz

ABSTRACT

Lipoprotein lipase deficiency is a genetic disorder with an autosomal recessive pattern of inheritance. It mostly presents in childhood and is characterized by severe chylomicronemia and hypertriglyceridemia. Lipoprotein lipase deficiency is a rare disorder. Its prevalence is approximately 1 in 1,000,000 in the general population. Lipoprotein lipase deficiency usually presents with Abdominal pain, xanthomas, loss of appetite, nausea, vomiting, arthralgia, and myalgia. Here we present a case of a 39-year-old man, who presented with a slightly different presentation of Lipoprotein lipase deficiency.

Keywords: Lipoprotein Lipase deficiency, LPL deficiency, pancreatitis, Abdominal pain


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