ApoC-II Deficiency
ApoC-II Deficiency is a rare genetic disorder that affects the metabolism of fats in the body. It is caused by mutations in the APOC2 gene, which is responsible for producing a protein called apolipoprotein C-II. This protein plays a crucial role in breaking down triglycerides, a type of fat found in the blood. Without sufficient ApoC-II, triglyceride levels can become dangerously high, leading to various health issues.
Individuals with ApoC-II Deficiency may experience symptoms such as abdominal pain, pancreatitis, and an increased risk of cardiovascular diseases. Diagnosis typically involves blood tests to measure triglyceride levels and genetic testing to confirm the deficiency. Treatment often focuses on managing triglyceride levels through dietary changes and medications.