Learning about Familial Hypercholesterolemia

Familial hypercholesterolemia is a genetic disorder. It is caused by a defect on chromosome 19. It causes LDL (Low Density Lipoprotein) cholesterol level to be very high. The deformity makes the body incapable to remove LDL (bad) cholesterol from the blood. This results in a high level of LDL in the blood.  The condition is typically passed down through families in an autosomal dominant way. This means you merely need to get the abnormal gene from one parent in order to acquire the disease. In uncommon cases, a child may acquire the gene from both parents. When this happens, the increase in cholesterol level is much more severe. The risk for heart attacks and heart disease are high, even in childhood.

High cholesterol became a very common medical condition, but it's frequently the result of unhealthy lifestyle choices, and thus treatable and preventable. With familial hypercholesterolemia, a person's chance of high cholesterol is higher because a defect (mutation) in a gene changes how the body processes or forms cholesterol. This mutation prevents the body from removing low-density lipoprotein (LDL) cholesterol from the blood. As a result, plaques can cause your arteries to narrow and solidify, expanding the risk of heart disease. 

To have the condition, children just need to acquire an altered copy of the gene from any one of the parent. Most individuals with familial hypercholesterolemia have one normal gene and one affected gene. In uncommon cases, a person inherits an affected copy from both parents, which can lead to a more extreme form of the condition.

Lifestyle changes, such as exercising and eating a healthy low-fat diet, are the primary line of defence against high cholesterol. Specific recommendations include: Reducing the amount of saturated fat in your diet, Devouring 10 to 20 grams of soluble fiber a day, maintaining a healthy body weight, increasing physical activity.

With familial hypercholesterolemia, doctor likely will recommend to take medication to help lower LDL cholesterol levels. The specific medication or medications depend on different factors, including age, current health and possible side effects.

Common medication choices of doctors include: Statins, Cholesterol absorption inhibitors, Combination cholesterol absorption inhibitor and statin, Bile-acid-binding resins, Injectable medications. Tolerance of medicines changes from person to person. The side effects include muscle pains, constipation, stomach pain, diarrhoea and nausea. Before taking cholesterol-lowering medication, doctor may recommend liver function tests to monitor the medication's effect on the liver.