Familial dysbetalipoproteinemia

Familial dysbetalipoproteinemia
Other names	Remnant hyperlipidemia,Remnant hyperlipoproteinaemia,Broad beta diseaseandRemnant removal disease
Familial dysbetalipoproteinemia is caused by this point mutation in ApoE
Specialty	Medical genetics,endocrinology

Familial dysbetalipoproteinemiaortype III hyperlipoproteinemiais a condition characterized by increased total cholesterol andtriglyceridelevels, and decreased HDL levels.

Signs and symptoms

Signs of familial dysbetaproteinemia includexanthoma striatum palmare(orange or yellow discoloration of the palms) andtuberoeruptive xanthomasover the elbows and knees. The disease leads to prematureatherosclerosisand therefore a possible early onset ofcoronary artery diseaseandperipheral vascular diseaseleading to a heart attack, i.e.myocardial infarction,chest pain on exercise, i.e.angina pectorisor stroke in young adults or middle aged patients.

Causes

This condition is more likely when a mutation inapolipoprotein E(ApoE) is present. ApoE serves as aligandfor theliverreceptor forchylomicrons,IDLandVLDL,also known asvery-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.

See also

• Primary hyperlipoproteinemia
• Apolipoprotein B deficiency
• List of cutaneous conditions