Familial dysbetalipoproteinemia

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Familial dysbetalipoproteinemia
Classification and external resources

Familial dysbetalipoproteinemia is caused by this point mutation in ApoE
OMIM 107741
MedlinePlus 000402

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 LDL, 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 know as remnants, and therefore leads to accumulation of their content - triglycerides and cholesterol, especially in the form of LDL.

See also

References

  1. ↑ 1.0 1.1 Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0. 
  2. ↑ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0. 
  3. ↑ 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.
  4. ↑ http://ghr.nlm.nih.gov/gene/APOE
Inborn error of lipid metabolism: dyslipidemia (E78, 272.0–272.6)
Hyperlipidemia
Hypolipoproteinemia
Lipodystrophy
Other

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