Hyperlipoproteinemia Type I is a rare genetic disorder characterized by an abnormal increase in the levels of lipoproteins, specifically chylomicrons, in the blood. Lipoproteins are responsible for transporting fats and cholesterol throughout the body.
Individuals with Hyperlipoproteinemia Type I have a deficiency or absence of an enzyme called lipoprotein lipase (LPL), which is essential for breaking down the triglycerides contained in chylomicrons. As a result, chylomicrons accumulate in the blood, leading to an excessive amount of fat circulating in the body.
This condition typically presents with symptoms such as fatty deposits beneath the skin (xanthomas), recurrent abdominal pain, and an enlarged liver and spleen. Additionally, individuals may experience episodes of pancreatitis, a painful inflammation of the pancreas, due to the presence of high triglyceride levels.
Hyperlipoproteinemia Type I is an autosomal recessive disorder, which means that both copies of the gene responsible for LPL deficiency must be inherited for the condition to occur. The disorder is usually diagnosed based on clinical history, physical examination, and laboratory tests indicating elevated levels of triglycerides.
Treatment for Hyperlipoproteinemia Type I involves adopting a strict low-fat diet supplemented with medium-chain triglycerides. This type of fat does not require the assistance of LPL for digestion and can therefore be metabolized more efficiently. Additionally, certain medications may be prescribed to help lower triglyceride levels and manage associated symptoms.
