A Man with Primary Hyperchylomicronemia with Triglyceride Levels Exceeding 11,000 mg/dL Was Well Controlled by Pemafibrate Combined with Dietary Therapy

Abstract

A 50-year-old man with a triglyceride (TG) level of 11,397 mg/dL was admitted to our hospital. He consumed a high-fat and high-carbohydrate diet as well as more than 100 g of alcohol per day. He had type 2 diabetes and obesity and had previously suffered from severe acute pancreatitis twice. A genetic analysis revealed compound heterozygous mutations in APOA5 (c.56C>G and c.553G>T). In addition to low-fat meals and alcohol cessation, administration of pemafibrate lowered his triglyceride levels to <150 mg/dL.

Keywords: acute pancreatitis; apolipoprotein A-V; pemafibrate; primary hyperchylomicronemia.

Figure 1.

(A) The “standing plasma” or “refrigeration” test. The blood sample was left standing still at 4°C. After 24 h, a cloudy, white, creamy layer appeared above the serum turbidity, demonstrating the presence of chylomicrons. (B) Lipoprotein fractionation by agarose gel electrophoresis showed an increase in the fractions of chylomicrons and VLDL. CM: chylomicrons, VLDL: very-low-density lipoprotein, LDL: low-density lipoprotein, HDL: high-density lipoprotein

Figure 2.

A schematic illustration showing changes in the patient’s serum TG and LDL-C levels and the medications administered during hospitalization. See text for details. FA: fatty acids, TG: triglycerides, LDL-C: low-density lipoprotein cholesterol

Figure 3.

A schematic diagram of the APOA5 gene and SNPs associated with TG metabolism. Exonic regions are shown as rectangles. Gray rectangles are the coding regions, and black rectangles are the untranslated regions. SNP: single nucleotide polymorphism, TG: triglycerides, UTR: untranslated region

Figure 4.

Pedigree of the patient’s family. The age order of the patient’s parents’ siblings is uncertain. The patient’s father and the father’s siblings had obesity and diabetes. The patient’s younger brother had hypertriglyceridemia but had not been genetically tested. The patient’s daughter had the c.56C>G mutation but not the c.553G>T mutation in the APOA5 gene. The daughter was a teenager, was not obese, and had a normal triglyceride level.