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

• Published in: Application of clinical genetics 2020-01, Vol.13, p.63-69
• Main Authors: Pinilla-Monsalve, Gabriel D, Lores, Juliana, Pachajoa, Harry, López-Ponce de León, Juan D, López, Alejandro, Rodríguez-Rojas, Lisa X, Nastasi-Catanese, José A
• Format: Article
• Language: English
• Subjects: Abdomen; apolipoprotein c-ii; Apolipoproteins; Case Report; Cholesterol; Disease; Frameshift mutation; Genes; hyperlipoproteinemia type i; Hypertension; Hypertriglyceridemia; Laboratories; Lipase; Lipoprotein lipase; Mutation; Pain; Pancreatitis; pancreatitis [mesh]; Patients; Population; Proteins; Statins; Triglycerides
• ISSN: 1178-704X; 1178-704X
• DOI: 10.2147/TACG.S243148

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 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 mutation. We propose that this mutation caused recurrent hypertriglyceridemic pancreatitis.