lipoprotein lipase deficiency
Lipoprotein lipase deficiency is a rare genetic disorder that affects the body's ability to break down fats. This condition occurs when the enzyme lipoprotein lipase is either absent or not functioning properly, leading to the accumulation of triglycerides in the blood. Individuals with this deficiency may experience symptoms such as abdominal pain, pancreatitis, and fatty deposits in the skin.
Diagnosis typically involves blood tests to measure triglyceride levels and genetic testing to identify mutations in the LPL gene. Treatment focuses on dietary changes, such as a low-fat diet, and may include medications to help manage triglyceride levels.