Case Report: Hypertriglyceridemia and Premature Atherosclerosis in a Patient With Apolipoprotein E Gene ε2ε1 Genotype

We present a case of a 40-year-old male with premature atherosclerosis, with evidence of both eruptive and tendinous xanthomas, which could imply an increase in both low-density lipoprotein (LDL) and triglyceride (TG) levels. However, his LDL was 2.08 mmol/l, TG -11.8 mmol/l on rosuvastatin 20 mg. Genetic evaluation was performed using a custom panel consisting of 25 genes and 280 variants responsible for lipid metabolism. A rare epsilon 2 epsilon 1 genotype of apolipoprotein E was detected. The combination of clinical manifestations and genetic factors in this patient leads to the diagnosis of familial dysbetalipoproteinemia. Implementation of genetic testing into routine clinical practice could not only improve disease diagnostics and management, but also help prevent their development.

Automated summary

This case study describes a 40-year-old male with premature atherosclerosis, exhibiting both eruptive and tendinous xanthomas. Genetic evaluation revealed a rare genotype of apolipoprotein E, leading to the diagnosis of familial dysbetalipoproteinemia. The implementation of genetic testing in routine clinical practice could enhance disease diagnostics, management, and prevention.