A Novel APOC2 Mutation in a Colombian Patient with Recurrent Hypertriglyceridemic Pancreatitis

Abstract

Gabriel D Pinilla-Monsalve,1,* Juliana Lores,1,2,* Harry Pachajoa,1,2 Juan D López-Ponce de León,1,3 Alejandro López,1,4 Lisa X Rodríguez-Rojas,1,2 José A Nastasi-Catanese1,2 1Faculty of Health Sciences, Universidad Icesi, Cali 760032, Colombia; 2Department of Genetics, Fundación Valle del Lili, Cali 760032, Colombia; 3Department of Cardiology, Fundación Valle del Lili, Cali 760032, Colombia; 4Department of Endocrinology, Fundación Valle del Lili, Cali 760032, Colombia*These authors contributed equally to this workCorrespondence: José A Nastasi-Catanese Cra. 98 No. 18-49, Cali 760032, ColombiaTel [phone]Fax [phone]Email [email protected]: Hypertriglyceridemia is a common disease with only 2% of cases exhibiting monogenic mutations. Familial chylomicronemia syndrome (FCS) is a rare genetic condition associated with recurrent and severe episodes of pancreatitis and is mainly caused by mutations in the LPL gene, with few cases related to abnormal function of apolipoprotein C-II. This is a 50-year-old female with a past medical history of arterial hypertension, miscarriage and recurrent pancreatitis. In the last four years, her triglycerides and lipase concentration reached > 3000 mg/dL and > 700 U/L, respectively. The patient was not responsive to statins, fibrates, or tetrahydrolipstatin. A novel homozygous frameshift mutation on exon 3 of the APOC2 gene was detected, c.133_134delTC. Subsequent Sanger sequencing confirmed that three first-degree relatives were carriers of the same mutation. To the best of our knowledge, we are reporting the first Colombian patient with FCS due to an APOC2 mutation. We propose that this mutation caused recurrent hypertriglyceridemic pancreatitis.Keywords: hypertriglyceridemia, hyperlipoproteinemia type I, apolipoprotein C-II, pancreatitis

Keywords

• hypertriglyceridemia
• hyperlipoproteinemia type i
• apolipoprotein c-ii
• pancreatitis [mesh].