|Other names: Remnant hyperlipidemia, Remnant hyperlipoproteinaemia, Broad beta disease and Remnant removal disease|
|Familial dysbetalipoproteinemia is caused by this point mutation in ApoE|
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.
This condition is caused by a mutation in apolipoprotein E (ApoE), that serves as a ligand for the liver receptor for chylomicrons, IDL and VLDL, also known as very-low-density-lipoprotein receptor. The normal ApoE turns into the defective ApoE2 form due to a genetic mutation. 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.
In terms of the diagnosis of this condition , the following is done to ascertain if the individual does indeed have Familial dysbetalipoproteinemia:
- Triglyceride level
- Genetic test
- Lipid panel blood test
First line of management are fibrates.
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