Familial dysbetalipoproteinemia
Familial dysbetalipoproteinemia | |
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File:ApoE2.jpg
Familial dysbetalipoproteinemia is caused by this point mutation in ApoE
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Classification and external resources | |
Specialty | Lua error in Module:Wikidata at line 446: attempt to index field 'wikibase' (a nil value). |
OMIM | 107741 |
MedlinePlus | 000402 |
Patient UK | Familial dysbetalipoproteinemia |
Familial dysbetalipoproteinemia or type III hyperlipoproteinemia (also known as "remnant hyperlipidemia", "remnant hyperlipoproteinaemia", "broad beta disease"[1] and "remnant removal disease"[1]) is a condition characterized by increased total cholesterol and triglyceride levels, and decreased HDL levels.[2]:534
Signs and symptoms
Signs of familial dysbetaproteinemia include xanthoma striatum palmare (orange or yellow discoloration of the palms) and tuberoeruptive xanthomas over the elbows and knees. The disease leads to premature atherosclerosis and therefore a possible early onset of coronary artery disease and peripheral vascular disease leading to a heart attack, i.e. myocardial infarction, chest pain on exercise, i.e. angina pectoris or stroke in young adults or middle aged patients.[3]
Causes
This condition is caused by a mutation in apolipoprotein E (ApoE), that serves as a ligand for the liver receptors for chylomicrons, IDL and VLDL or Very Low Density lipoprotein receptors. The normal ApoE turns into the defective ApoE2 form due to a genetic mutation.[4] This defect prevents the normal metabolism of chylomicrons, IDL and VLDL, otherwise known as remnants, and therefore leads to accumulation of cholesterol within scavenger cells (macrophages) to enhance development and acceleration of atherosclerosis.
See also
References
- ↑ 1.0 1.1 Lua error in package.lua at line 80: module 'strict' not found.
- ↑ Lua error in package.lua at line 80: module 'strict' not found.
- ↑ Genest J, Libby P. Lipoprotein disorders and cardiovascular disease. In: Bonow RO, Mann DL, Zipes DP, Libby P, eds. Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine. 9th ed. Philadelphia, PA:Saunders Elsevier; 2011:chap 47.
- ↑ http://ghr.nlm.nih.gov/gene/APOE
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