Hereditary cholesterol: a genetic disorder that you need to know about

hereditary cholesterol disease

Cholesterol is a waxy substance that is found in small quantities in the cells of the body, and the accumulation of this substance on the walls of the arteries causes hardening, causing severe complications.

Hereditary cholesterol: a genetic disorder that you need to know about

 Hence, genetic cholesterol disease can be defined as a high level of cholesterol in the blood in general, specifically the type known scientifically as low-density lipoprotein.

 This occurs as a result of inheriting genes responsible for this, and hereditary cholesterol disease is one of the most severe and dangerous types of high cholesterol disease. 

Among every 500 people in the world, the gene that causes familial hypercholesterolemia causes an imbalance in the liver’s ability to get rid of the excess amount of low-density lipoprotein in the body, which leads to an increase in its ratio in the blood, and its accumulation In the walls of the arteries, and it increases the possibility of atherosclerosis, heart attacks, and heart disease at an early age, and the possibility of a stroke also increases.

Types of hereditary cholesterol disease

The genetic mutation that causes hereditary cholesterol disease is inherited from one or both parents, and accordingly, it can be divided into two types, as follows:

  1. Heterozygous familial hypercholesterolemia; This type of hereditary cholesterol disease occurs when the genetic mutation responsible for this disease is inherited from only one parent without the other.
  2. homozygous familial hypercholesterolemia; This type is rare, as homozygous familial high cholesterol occurs as a result of inheriting the genetic mutation that causes this disease from both parents, and it should be noted that people with this type of familial high cholesterol have very high levels of low-density lipoprotein in their bodies, and most Those with this type of health require appropriate surgical intervention.

Diagnosing hereditary cholesterol

Hereditary high cholesterol is diagnosed by following several procedures and tests, which contribute to detecting this disease, and among these procedures, we mention the following:

  1. Physical examination: The physical examination helps to detect the presence of any type of fatty deposits in the body, or the presence of any damage resulting from the high percentage of lipoprotein in the body.
  2. Blood tests: In this test, the general cholesterol and low-density lipoprotein levels in the blood are detected, which are often high. The doctor also tests the level of triglycerides or triglycerides, which are usually normal in the blood, through a blood test. In cases of hereditary high cholesterol, the normal ratio of triglycerides is less than 150 mg/deciliter.
  3. Family history: A family history of heart disease contributes to the identification of the risk of hereditary high cholesterol.
  4. Genetic testing: Genetic testing helps to detect familial cholesterol disease, and accordingly appropriate therapeutic measures can be taken that reduce mortality rates from heart disease at an early stage.
  5. Cardiac tests: This includes an ultrasound and a cardiac stress test.

Cholesterol hereditary treatment

Hereditary cholesterol disease can be treated, and the general level of cholesterol in the blood reduced, by the following:

  • Drug therapy: where these drugs work to reduce the level of low-density lipoprotein in the blood of people with hereditary cholesterol disease, examples of which are the following:
    • statins; Statins inhibit the production of cholesterol by the liver, which leads to an increase in the activity of the liver to get rid of cholesterol in the blood. It also helps to re-absorb the cholesterol accumulated in the arterial walls, which contributes to reducing the risk of cardiovascular disease. Examples of this group are; Atorvastatin, fluvastatin, lovastatin, pitavastatin, pravastatin, rosuvastatin, and simvastatin.
    • bile acid curves; These drugs indirectly lower cholesterol levels, by linking cholesterol to the bile produced by the liver, which aids in the digestive process. on this drug group; Cholestyramine, colesevelam, and colestipol.
    • cholesterol absorption inhibitors; Where these drugs reduce the intestinal absorption of cholesterol from food, thus lowering cholesterol levels in the blood, one example is ezetimibe. It should be noted that there are some combination drugs prepared by combining this drug group with statins; It is possible the use these combination drugs to reduce the intestinal absorption of cholesterol from food, and on the other hand, to reduce the manufacture of cholesterol in the liver. Examples of this drug combination are ezetimibe and simvastatin.
    • medicines given by injection; They are new drug groups given by injection, which help reduce the proportion of low-density lipoprotein in the blood, by increasing the absorption of this lipoprotein by the liver and thus lowering cholesterol levels in the blood. Examples of these drugs are; Alirocumab and evolocumab.

  • Lifestyle change: There are several medical recommendations, according to which lifestyle changes are the first line of defense against high cholesterol, and these changes include:
    • Increase physical activity and exercise.
    • Eat foods that contain biodegradable dietary fiber, as it is recommended to consume 10-20 grams of it daily, which can be obtained from oats, peas, beans, apples, citrus fruits, and carrots.
    • Reducing the consumption of saturated fats, so that it does not exceed 30% of the daily calorie intake.
    • Maintaining a healthy weight.

Video about Is High Cholesterol Hereditary?

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