Why MSS FH 1536™?

LDL Cholesterol - The Silent Killer


LDL cholesterol (or the bad cholesterol) is one of the main causes for heart disease leading to heart attack. This is due to the fact that LDL cholesterol coats the inside of the arteries with fat narrowing them up by building debris on the inside of the arteries causing atherosclerosis. 


LDL Cholesterol is removed from the blood by the liver using Low Density Lipoprotein (LDL) receptors. Each person has two genes that are responsible for making the LDL receptors: one received from the father and one received from the mother.  In a person with Familial Hypercholesterolemia (FH), an abnormal gene was passed on from one parent who has FH and a normal gene was passed on from the other parent. Therefore, half of the LDL receptors are absent or do not work properly and the other half are normal. Due to the fact that half of the receptors do not remove the cholesterol normally, cholesterol levels elevated in the blood, which further causes damage to blood vessels, blockage of arteries. There are an estimated 10 million individuals with FH worldwide. Premature heart disease and death in middle-aged productive men and women occurs because their FH is not diagnosed or properly treated. The National Cholesterol Education Program (NCEP) guidelines suggest children in a FH family be checked at age two. There are several other genes in addition to LDLR which contribute to the causation of the disease.


FH has no obvious symptoms until problems have already developed (elevated LDL cholesterol levels shown in biochemical result). The clinical symptoms which only appeared at much later stage include chest pain and calf pain when walking (due to narrowed or blocked arteries).


How is FH diagnosed currently?


Doctor diagnoses FH through clinical assessments which are based are on physical, clinical examination, imaging study (aortic stenosis/valve abnormalities, tendon xanthomas), lipoprotein electrophoresis and most commonly, biochemistry analysis by blood test. A total cholesterol level above 240mg/dLindicates elevated levels and hypercholesterolemia. Although molecular diagnosis which detects different mutations in the LDL-receptor geneis highly recommended in all the FH Assessment Criteria and WHO guideline, it is not widely used due to the unavailability of such molecular test. 


What are the benefits of undergoing Molecular Screening Services for FH1536™?


MSS for FH1536 allows molecular diagnosis of FH, at any age and before overt clinical symptoms develop. It helps identify children and clinically healthy person with the disease. If a parent has FH there is a strong likelihood, 50% or more, that their children have it, and the children can be tested. The earlier the diagnosis the better the outcome since patients with FH is constantly accumulating cholesterol from birth. Apart from that, patients informed of the genetic basis of the disease and the corresponding functional consequences adhere to their treatment protocol more strongly. Early and sustained treatment have shown FH patients to respond very well and have “normal” build up in arterial walls.