From Surf Wiki (app.surf) — the open knowledge base

Familial dysbetalipoproteinemia

Field	Value
name	Familial dysbetalipoproteinemia
synonyms	Remnant hyperlipidemia, Remnant hyperlipoproteinaemia, Broad beta disease and Remnant removal disease
image	ApoE2.jpg
caption	Familial dysbetalipoproteinemia is caused by this point mutation in ApoE

Familial dysbetalipoproteinemia or type III hyperlipoproteinemia is a condition characterized by increased total cholesterol and triglyceride levels, and decreased HDL levels.

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.

Causes

This condition is more likely when a mutation in apolipoprotein E (ApoE) is present. ApoE serves as a ligand for the liver receptor for chylomicrons, IDL and VLDL, also known as very-low-density-lipoprotein receptor. Individuals with two copies of the ApoE2 gene have substantially elevated risk of this condition. 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.

Treatment

First line of management is fibrates.

References

Rapini, Ronald P.. (2007). "Dermatology: 2-Volume Set". Mosby.
James, William D.. (2006). "Andrews' Diseases of the Skin: clinical Dermatology". Saunders Elsevier.
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.
"APOE gene".
(2004). "Apolipoprotein E and familial dysbetalipoproteinemia: clinical, biochemical, and genetic aspects". Seminars in Vascular Medicine.

Info: Wikipedia Source

This article was imported from Wikipedia and is available under the Creative Commons Attribution-ShareAlike 4.0 License. Content has been adapted to SurfDoc format. Original contributors can be found on the article history page.

skin-conditions-resulting-from-errors-in-metabolism lipid-metabolism-disorders

Want to explore this topic further?

Ask Mako anything about Familial dysbetalipoproteinemia — get instant answers, deeper analysis, and related topics.

Research with Mako

Free with your Surf account

Content sourced from Wikipedia, available under CC BY-SA 4.0.

This content may have been generated or modified by AI. CloudSurf Software LLC is not responsible for the accuracy, completeness, or reliability of AI-generated content. Always verify important information from primary sources.

Report