Everybody needs a certain amount of cholesterol in order to be healthy. Most cholesterol is made by our bodies, and other cholesterol enters our bodies in the foods we eat. A primary component of managing cholesterol in the body is the low density lipoprotein receptor, also known as the LDL receptor.
What Does the LDL Receptor Do?
The primary job of LDL receptors is to keep the amount of cholesterol in the blood at a normal level. LDL receptors are on the outside of many different cells. When low density lipoproteins, sometimes referred to as the “bad” cholesterol, circulate through the body, the LDL receptors pick them up and get them into the cell. Once the LDL receptors are finished getting the LDLs into the cell, they go back to the surface of the cell to pick up more LDLs and repeat the process over again.
Inside the cell is where the LDLs create cholesterol. Cholesterol is a fatty, waxy substance that helps to keep the body functioning correctly. When cholesterol is inside of our cells, it is either used by the cell, stored, or expelled from the body.
Many of our LDL receptors are found in the liver. The liver works hard to get rid of unneeded cholesterol. The more LDL receptors, the quicker LDL cholesterol is removed from the body.
How Can Gene Mutations Affect the LDL Receptor?
A mutation in the LDL receptor gene can result in elevated cholesterol. When LDL receptors do not function correctly, LDL stays in the bloodstream longer than it should. LDL then gets into the artery walls, where it can harden and narrow the passages in the arteries.
Familial hypercholesterolemia (FH) is an inherited disorder that causes high levels of LDLs to be present in the body and is a disorder that is often caused by a mutated LDL receptor gene. FH can lead to early cardiovascular disease and heart attacks at a young age. Due to high LDL levels, FH can have the symptom of fatty deposits on the skin and tendons.
What Should You Do if You Have FH?
Unfortunately, less than 10% of people who have FH know that they are affected by it. Most people with FH are unaware that they have this condition and may not find out until they have suffered a heart attack.Although FH never goes away, and the LDL receptor in an affected person will never work correctly, there are steps that can be taken to improve cholesterol levels. Someone with FH should ensure that they are getting the proper amount of exercise as recommended by their doctor. They should also follow a heart-healthy diet. Not smoking and keeping blood pressure at safe levels are also important lifestyle changes to make. Medication may also be prescribed by a doctor to control cholesterol levels due to FH and malfunctioning LDL receptors.