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Glossary for Familial hyperchylomicronemia

  • Abdominal pain: A condition which is characterized by the sensation of pain that is located in the abdomen
  • Anorexia: Any type of appetite loss; often refers to anorexia nervosa
  • Atherosclerosis: Atherosclerosis is a syndrome affecting arterial blood vessels. It is a chronic inflammatory response in the walls of arteries, in large part due to the accumulation of macrophage white blood cells and promoted by low density (especially small particle) lipoproteins (plasma proteins that carry cholesterol and triglycerides) without adequate removal of fats and cholesterol from the macrophages by functional high density lipoproteins (HDL). It is commonly referred to as a hardening or furring of the arteries. It is caused by the formation of multiple plaques within the arteries.
  • Blood conditions: Conditions that affect the blood
  • Congenital conditions -- blood disorders: Congenital medical conditions affecting the blood at birth.
  • Failure to thrive: Slow growth or inadequate weight gain of an infant or child.
  • Familial Lipoprotein Lipase Deficiency: An hereditary condition characterized by a deficiency of lipoprotein lipase
  • Familial hyperlipoproteinemia type 1: A genetic disorder characterized by abnormal lipid (chylomicrons and high triglyceride lipids) breakdown which results in its accumulation in the blood. The disorder is caused by the reduced or absent activity of the enzyme lipoprotein lipase. The severity of the condition is determined by the degree of the deficiency and treatment. The disorder tends to run in families (familial).
  • Fever: Elevation of the body temperature above the normal 37 degrees celsius
  • Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
  • Hyperchylomicronemia: A term used to describe the presence of too many chylomicrons in the blood.
  • Hyperlipoproteinemia: Hyperlipoproteinemia is a medical term for high levels of lipids in the blood which in turn causes high cholesterol levels. Lipoproteins are responsible for transporting cholesterol in the bloodstream and high levels of them in the bloodstream means that there are high levels of cholesterol in the bloodstream.
  • Lipid metabolism conditions: Disorders affecting the metabolism of lipids (blood fats), including cholesterol.
  • Malaise: General feelings of discomfort or being ill-at-ease.
  • Metabolic disorders: Disorders that affect the metabolic system in human
  • Swollen spleen: Swelling or enlargement of the spleen
  • Type I Hyperlipoproteinemia: Type I Hyperlipoproteinemia is a rare inherited condition characterized by high levels of chylomicrons (a type of lipoprotein) in the blood. This condition is the result of low levels of lipoprotein lipase which is responsible for lowering lipoprotein levels. Cholesterol levels are usually normal and the risk of heart disease is low.


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