Key result
A novel homozygous frameshift mutation (c.133_134delTC) in the APOC2 gene was identified as the cause of familial chylomicronemia syndrome and recurrent pancreatitis in a Colombian patient.
Why the study?
Familial chylomicronemia syndrome is a rare genetic condition causing recurrent severe pancreatitis, mainly due to LPL mutations with few cases linked to APOC2 dysfunction.
Case Report (n=1)
Identified the first Colombian patient with familial chylomicronemia syndrome due to a novel APOC2 mutation causing recurrent hypertriglyceridemic pancreatitis.
May inform genetic counseling in recurrent pancreatitis; leaves open variant prevalence and management impact.
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.
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Pinilla-Monsalve et al. (2020) conducted a case report in Familial chylomicronemia syndrome (FCS) / Recurrent hypertriglyceridemic pancreatitis (n=1). APOC2 gene mutation (c.133_134delTC) was evaluated on Identification of genetic mutation. A novel homozygous frameshift mutation (c.133_134delTC) in the APOC2 gene was identified as the cause of familial chylomicronemia syndrome and recurrent pancreatitis in a Colombian patient.
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