A case of apolipoprotein C-II deficiency with coronary artery disease

Area of Science:

• Cardiovascular Medicine
• Genetics
• Lipidology

Background:

• Apolipoprotein C-II (ApoC-II) deficiency is a rare genetic disorder characterized by severe hypertriglyceridemia and recurrent pancreatitis.
• Coronary artery disease (CAD) is a significant cause of morbidity and mortality, often associated with traditional risk factors.

Observation:

• A 56-year-old male with diagnosed apolipoprotein C-II deficiency presented with myocardial infarction and complete coronary artery occlusions.
• Lipid profile revealed significantly elevated postprandial triglycerides and low high-density lipoprotein cholesterol, with markedly reduced plasma apolipoprotein C-II levels.
• Genetic analysis did not identify mutations in the common exons of the apolipoprotein C-II gene.

Findings:

• The patient exhibited a very rare heterozygous form of apolipoprotein C-II deficiency.
• Coronary atherosclerosis was observed in the absence of pancreatitis, a common complication of ApoC-II deficiency.
• Lipoprotein abnormalities secondary to potential unidentified mutations in the apolipoprotein C-II gene are implicated in the development of CAD.

Implications:

• This case highlights the potential for apolipoprotein C-II deficiency, even in its heterozygous and potentially milder forms, to contribute to premature coronary artery disease.
• Further research into the genetic basis and clinical manifestations of less common apolipoprotein C-II deficiency variants is warranted.
• Understanding the link between specific lipoprotein abnormalities and atherosclerosis in rare genetic disorders can inform risk stratification and management strategies for cardiovascular disease.