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Diseases » Xanthoma » Glossary
 

Glossary for Xanthoma

  • Adams Nance syndrome: A rare genetic disorder characterized by rapid heartbeat, high blood pressure, small eyes and the presence of excess glycine in the urine.
  • Addison-Gull syndrome: A condition where scarring of the liver and bile ducts which results in chronic jaundice, enlarged spleen and liver and yellow skin plaques due to abnormal lipid metabolism.
  • Alagille Syndrome: A genetic disorder affecting the liver and characterized by the absence of some or all of the liver bile ducts that transport bile within the liver.
  • Angina: A special type of chest pain.
  • 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.
  • Cholestasis: A condition where the bile flow is impaired or completely halted.
  • Cleft lip palate -- deafness -- sacral lipoma: A very rare syndrome characterized mainly by an opening in the palate and lip, deafness and a lipoma in the end portion of the spine.
  • Cohen-Hayden syndrome: A very rare syndrome characterized mainly by mental retardation, eye defect and various growth abnormalities of the bone, skin and head.
  • Familial HDL deficiency: A rare genetic disorder characterized by a deficiency of high density lipoproteins (HDL). Severity of symptoms is determined by the degree of deficiency. The disorder tends to run in families (familial).
  • Familial Hypercholesterolemia: A genetic abnormality which causes patients to have abnormally high cholesterol levels (low-density lipoproteins). The condition usually leads to early cardiovascular disease.
  • Familial hyperlipoproteinemia: A group of genetic disorder characterized by abnormal breakdown of lipoproteins which causes abnormal lipoprotein and lipid levels in the blood. There are various types of this condition: hyperlipoproteinemia type I, II, III, IV and V. The type and severity of symptoms vary between types. The disorder tends to run in families (familial).
  • 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).
  • Familial hyperlipoproteinemia type 3: A genetic disorder characterized by abnormal lipid (cholesterol and triglyceride) breakdown which causes it to accumulate in the blood. The disorder tends to run in families (familial).
  • Glycogen Storage Disease Type I: An inherited metabolic disorder where a deficiency of the enzyme glucose-6-phosphatase prevents glycogen being turned into glucose leading to a buildup of glycogen in the liver and kidneys. Most problems tend to develop during adulthood.
  • Glycogen storage disease type 1C: A genetic metabolic disorder involving a deficiency of the enzyme glucose-6-phosphatase (due to a defect in the microsomal phosphate) which results in the accumulation of glycogen in various tissues. G6P is stored as glycogen until the body needs to convert it to a sugar for energy. The enzyme deficiency prevents the conversion and hence low blood sugar levels result.
  • Glycogen storage disease type 1D: A genetic metabolic disorder involving a deficiency of the enzyme glucose-6-phosphatase (due to a defect in the microsomal glucose transporter) which results in the accumulation of glycogen in various tissues. G6P is stored as glycogen until the body needs to convert it to a sugar for energy. The enzyme deficiency prevents the conversion and hence low blood sugar levels result.
  • Hapnes-Boman-Skeie syndrome: A rare disorder where the abnormal attachment of tendons in the fingers prevents them from opening and closing normally.
  • Heart attack: Serious and often fatal acute heart condition
  • High Cholesterol: High levels of blood cholesterol, triglycerides, or other lipids.
  • High triglycerides: A condition characterized by elevated triglycerides in the blood
  • Hyperchylomicronemia: A term used to describe the presence of too many chylomicrons in the blood.
  • Hyperlipidaemia: An elevated amount of lipids in the blood of the body
  • 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.
  • Hyperlipoproteinemia type 2: A rare inherited blood disorder characterized by high levels of betalipoproteins and cholesterol.
  • Hyperlipoproteinemia type 3: A rare genetic disorder characterized by the body's impaired ability to break down certain lipids (triglycerides) which results in their buildup in the blood.
  • Lipid metabolism conditions: Disorders affecting the metabolism of lipids (blood fats), including cholesterol.
  • Lipoprotein disorder: Abnormal lipoprotein use or processing by the body. The main repercussions of the disorder tends to be fatty deposits called xanthomas and premature heart disease. Examples of specific lipoprotein disorders includes type II hyperlipoproteinemia, hypoalphalipoproteinemia, hypertriglyceridemia and high lipoprotein a levels. Lipoprotein disorders can also result in harmfully low levels of lipoproteins which can cause symptoms such as failure to thrive and neuromuscular degeneration. Abetalipoproteinemia is an example of a lipoprotein disorder involving low blood lipoprotein levels.
  • Metabolic disorders: Disorders that affect the metabolic system in human
  • Obesity: An increase in the body weight greater than that required for normal function that is characterised by the accumulation of excessive fat
  • Primary biliary cirrhosis: Primary biliary cirrhosis is a chronic and progressive cholestatic disease of the liver.
  • Proteus like syndrome mental retardation eye defect: A very rare syndrome characterized mainly by mental retardation, eye defect and various growth abnormalities of the bone, skin and head.
  • Skin conditions: Any condition that affects the skin
  • Type I Glycogen Storage Disease: A condition which is characterized by a disease affecting glycogen storage
  • 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.
  • Type II Hyperlipoproteinemia: Type II Hyperlipoproteinemia is a condition characterized by high levels of beta-lipoproteins in the blood. The high cholesterol results from abnormally high levels of low density lipoproteins in the blood due to a deficiency of LDL receptors. There are two subtypes of this condition: type IIa and type IIb. 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.
  • Type III Hyperlipoproteinemia: Type III hyperlipoproteinemia is a rare genetic condition characterized by increased blood levels of intermediate density lipoproteins (IDL) which in turn causes high cholesterol levels. The high IDL levels are caused by an abnormality in apolipoprotein E. Apolipoprotein E is a protein found on IDLs which allows the IDLs to bind to liver cells. Without this binding process, the level of IDLs in the blood increase. 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.
  • Type IIa Hyperlipoproteinemia: Familial Hyperlipoproteinemia is a rare genetic condition characterized by high levels of low density lipoproteins in the blood. A deficiency of LDL receptors leads to an increased level of low density lipoproteins (LDLs) 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.
  • Type IIb Hyperlipoproteinemia: Type IIb Hyperlipoproteinemia is a condition characterized by increased blood levels of low density lipoproteins (LDL) and apoprotein B (ApoB). This 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.
  • Type IV Hyperlipoproteinemia: Type IV Hyperlipoproteinemia is an inherited condition characterized by high levels of very low density lipoproteins (VLDL) 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. The high VLDL levels are a result of increased production and reduced elimination of the VLDLs. Environmental factors are the driving force behind this condition.
  • Type Ia Hyperlipoproteinemia: Type Ia 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.
  • Type Ib Hyperlipoproteinemia: Type Ib 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 apolipoprotein C-II which is responsible for lowering lipoprotein levels. Cholesterol levels are usually normal and the risk of heart disease is low.
  • Type Ic Hyperlipoproteinemia: Type Ic 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 inhibited lipoprotein lipase activity. Lipoprotein lipase is responsible for lowering lipoprotein levels. Cholesterol levels are usually normal and the risk of heart disease is low.
  • Type V Hyperlipoproteinemia: Type V Hyperlipoproteinemia is a rare condition characterized by increased synthesis of very low density lipoproteins (VLDL) and reduced levels of lipoprotein lipase (an enzyme). 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.
  • Van Bogaert disease: A rare inherited condition where cholesterol is deposited in the brain and other parts of the body. The disease is classified as a lipid storage disorder due to the abnormal deposition of cholesterol and cholestanol in various parts of the body - especially the brain, lungs and Achilles tendon. The condition is possibly highly underdiagnosed.
  • Van Bogaert's disease: A rare inherited condition where cholesterol is deposited in the brain and other parts of the body. The disease is classified as a lipid storage disorder due to the abnormal deposition of cholesterol and cholestanol in various parts of the body - especially the brain, lungs and Achilles tendon. The condition is possibly highly underdiagnosed.
  • Van Bogaert-Scherer-Epstein Disease: A rare inherited condition where cholesterol is deposited in the brain and other parts of the body. The disease is classified as a lipid storage disorder due to the abnormal deposition of cholesterol and cholestanol in various parts of the body - especially the brain, lungs and Achilles tendon. The condition is possibly highly underdiagnosed.
  • Von Gierke Disease: An inherited metabolic disorder where a deficiency of the enzyme glucose-6-phosphatase prevents glycogen being turned into glucose leading to a buildup of glycogen in the liver and kidneys.
  • Xanthomatosis cerebrotendinous: A rare inherited condition where cholesterol is deposited in the brain and other parts of the body. The disease is classified as a lipid storage disorder due to the abnormal deposition of cholesterol and cholestanol in various parts of the body - especially the brain, lungs and Achilles tendon. The condition is possibly highly underdiagnosed.

 

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