PMC7125404_01
Laboratory and imaging findings. (A) Creamy supernatant from drawn blood. (B) Progression of serum concentrations over time for TG, total cholesterol and lipase. Star (*) specifies heparin infusion and error bars represent interquartile range (TG n=6, lipase n=2). (C) Coronal MRI showing acute pancreatitis. Arrows designate inflammatory plastron.
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ALT 374 U/L). Abdominal contrasted computed tomography and magnetic resonance showed inflammation of the pancreatic head, neck and uncinated process with plastron and signs of portal hypertension (Figure 1). Over this year, fibrates have been rotated from gemfibrozil to fenofibrate and ciprofibrate due to fluctuations on TG levels (Figure 1).
PMC7125404_02
APOC2 protein scheme and three-dimensional visualization via Swiss-PDB Viewer. (A) Wild-type APOC2 protein. The purple polygons indicate the signal peptide domain. H1: helix 1; H2: helix 2; H3: helix 3. (B) Suggested structure of mutated APOC2 protein (p.Ser45Glnfs*24). The structure variation due to a frameshift mutation in protein is shown. In red: the aminoacid change; light color: the regions lost due to the premature stop codon.
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This 2-nucleotide deletion on exon 3 converts the serine codon at position 45 into glutamine, which causes a frameshift resulting in an early stop codon 23 residues later (Figure 2).
Family pedigree and Sanger sequencing. (A) Pedigree demonstrating consanguineous relationship in the patients' parents and carrier status of the frameshift mutation c.133_134delTC in exon 3 of the APOC2 gene. Arrow: index case; black symbol: familial chylomicronemia syndrome; black dot: heterozygous carriers (B) Sanger sequencing electropherogram of the patient and carriers of the frameshift mutation in the APOC2 gene.
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The patient's mother (75 years old), brother (52 years old), and son (23 years old) consented for genetic testing and were found to be heterozygous for this pathogenic variant (Figure 3).