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We all know that cholesterol is an important component of cell membranes and is required for many bodily functions such as hormone production. It is produced during the digestion of oil and fat-containing foods. It is also manufactured in the liver. In this section, we will look at high cholesterol as a genetic issue. So, if you are having problems with this disease, this article may be of assistance to you.
What is Genetic High Cholesterol?
Cholesterol is found in two types of particles in the blood. Low-density lipoprotein (LDL) cholesterol is known as “bad” cholesterol because it contributes to heart disease by sticking to and narrowing the arteries supplying the heart. Because it keeps LDL levels in check, high-density lipoprotein (HDL) cholesterol is known as the “good” cholesterol.
Familial hypercholesterolemia is an inherited condition characterized by elevated LDL blood cholesterol levels. It is responsible for up to 10% of early-onset coronary artery disease – heart disease that occurs before the age of 55. A gene mutation is the root cause.
It is estimated that one in every 300 Australians will be affected. Familial hypercholesterolemia is also known as familial hyperlipidemia, hypercholesterolemia, xanthomatotic, and low-density lipoprotein receptor mutation. Moreover, experts can explain you in a better way so please contact them if you have such problems.
Patterns of High Cholesterol
The bloodstream transports cholesterol to cells. Normally, tiny LDL cholesterol particles attach to receptor sites on the targeted cells and are absorbed. The production of these receptors is controlled by the LDLR gene on chromosome 19. The majority of familial hypercholesterolemia is caused by an LDLR gene mutation that alters the way the receptors develop, either in number or structure.
This means that LDL cholesterol is not well absorbed by cells and remains in the bloodstream. High blood cholesterol is highly known as a risk factor for coronary artery disease because it adheres to the artery walls, forms fatty plaques, and reduces artery diameter (atherosclerosis). Familial hypercholesterolemia is sometimes caused by a mutation in another gene, such as APOB or PCSK9.
Symptoms of High Cholesterol
High blood cholesterol can be asymptomatic, which means the person may be unaware of their condition. The following are some of the signs and symptoms of familial hypercholesterolemia:
- A family history of the disorder
- High LDL cholesterol levels that do not respond to treatment in one or both parents
- A family history of heart attacks at a young age
- Cholesterol deposits on the knees, elbows, and buttocks (xanthomas)
- Chest pain caused by narrowed coronary arteries (angina)
- A heart attack at a young age
Causes
A gene mutation passed down from one or both parents causes familial hypercholesterolemia. This condition is inherited by those who have it. This modification prevents the body from eliminating the type of cholesterol that can accumulate in the arteries and cause heart disease.
Risk Factors
- If one or both of your parents have the gene mutation that causes familial hypercholesterolemia, you are more likely to develop it.
- Mostly the people with this condition have only one affected gene. In rare cases, a child may inherit the faulty gene from both parents. This can result in a more severe case of the condition.
- Familial hypercholesterolemia may be more common in certain groups.
Treatments
Familial hypercholesterolemia has no cure. you should consult an expert in order to get a better treatment. Treatment aims to lower the person’s risk of coronary artery disease and heart attack and may include the following:
Dietary Changes
- Recommended dietary changes include a reduction in saturated fat and cholesterol-rich foods, as well as an increase in fibre intake. Dietary changes are usually the first line of treatment. Test results in three months will show whether more aggressive treatment is required.
Plant Sterols and Stanols
- These substances have a similar structure to cholesterol but are not absorbed by cells. According to research, increasing your intake of plant sterols and stanols can significantly lower your blood cholesterol. Corn, rice, vegetable oils, and nuts are all good sources.
Exercise
- It has been shown that regular exercise lowers blood cholesterol levels. Any exercise program should be under the supervision of your doctor.
Loss of Weight
- Obesity is a risk factor. If you are maintaining a healthy weight for your height can lower your chances of developing coronary artery disease and having a heart attack.
Quit Smoking
- Smoking causes cholesterol to stick to artery walls. If you are not smoking then this can significantly lower your risk of having a heart attack.
Medication
- Only a small percentage of people with familial hypercholesterolemia will be able to lower their cholesterol levels through diet and lifestyle changes alone. Most will require specialized cholesterol-lowering medications.
Final Notes
The way the body controls cholesterol is affected by familial hypercholesterolemia. As a result, people with familial hypercholesterolemia are more likely to develop heart disease and have a heart attack at a younger age.
The genetic changes that cause familial hypercholesterolemia are passed down through families. Although the condition exists from birth, symptoms may not appear until adulthood. As a result, if you notice any of the above-mentioned symptoms, we recommend that you consult a specialist.
Book an appointment now, to answer all your queries. You can book an appointment with the top endocrinologists in Pakistan through Marham by calling at Marham helpline: 0311-1222398 or by online booking facility through the website or Marham mobile app.
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FAQ’s
Is it possible to cure inherited high cholesterol?
The majority of cases of familial hypercholesterolemia are caused by a mutation in the LDL-receptor gene. Because they can’t get rid of cholesterol, the liver produces more because it doesn’t realize it has enough from the bloodstream.
What is the prevalence of inherited high cholesterol?
Anyone who carries one of the 1,500 possible gene variants that cause the condition has a 50% chance of passing it on to their children.
Is it possible to have high cholesterol due to genetics?
Familial hypercholesterolemia (FH) is an inherited condition that can result in dangerously high cholesterol levels. It is genetically passed down through families. FH, if left untreated, can lead to heart disease at a young age.
Is it possible to live a long life if you have high cholesterol?
High cholesterol is associated with a shorter life span due to the risk of heart attack and stroke, but it is still possible to live a long life with high cholesterol if you follow a heart-healthy lifestyle and take medication as needed.
