Introduction
Homozygous familial hypercholesterolemiaMake your body more difficult to remove low-density lipoprotein "bad" cholesterol from your blood. This disease increases the chance of heart disease. Heart attacks occur at a very young age, but drugs and other treatments can reduce your risk.
Cholesterol is a waxy substance found in your cells. Low-density lipoprotein His job is to carry cholesterol in the blood.
When you have high levels of LDL cholesterol accumulating arteries in your body, the blood provides a container of oxygen to your body. Cholesterol will eventually stop blood and oxygen from flowing to your body, causing a heart attack.
Homozygous familial hypercholesterolemia is a disease at birth. You can start to develop high cholesterol when you are still a child.
The situation is very serious. Without treatment, men with homozygous familial hypercholesterolemia can get heart disease in their 40s and women in their 50s.
Cause
When you have homozygous familial hypercholesterolemia, you will inherit two abnormal copies of the gene, one from your parents.
Usually the liver uses particles called LDL receptors to remove extra LDL cholesterol from the blood. These receptors are attached to LDL cholesterol while keeping your cholesterol levels under control. When you have this disease, the defective gene prevents the LDL receptor from working properly. Your cholesterol level is a little higher.
You can hear the word familial hypercholesterolemia. This is a related disease. With it, you only inherit broken genes from one of your parents. It is not as serious as homozygous.
symptom
The main hallmark of this condition is the high levels of total cholesterol and low-density lipoprotein cholesterol. For example, your total cholesterol level may be 600 points or higher. In contrast, the American Heart Association recommends an ideal total cholesterol value of no more than 200.
You may have yellow, waxy plaque on your elbow, knees and buttocks. These are called xanthoma.
Yellow fat deposits called xanthoma can develop in your eyelids. In addition, you can get a gray or white circle around your cornea, clear the front part of the eye.
Some heart disease symptoms you may include:
Chest pain (angina)
Fast heartbeat
Shortness of breath
Get diagnosed
Your doctor will do a physical examination and do some blood tests. To help with the diagnosis, he may ask you:
Have you noticed that there are yellow spots on your skin?
Do you have chest pain?
Have you noticed that you are short of breath?
Does your heartbeat look very fast?
Is your parents high in cholesterol?
Your doctor will check your cholesterol levels by taking a blood sample and sending it to the lab for analysis.
You may need a blood test to find the abnormal genes that cause this. Your doctor may also want to test some of your close relatives to see if they have the disease.
Ask your doctor
Do I need to change my diet?
Is there a drug that lowers cholesterol?
How do you check if my treatment is effective?
If diet and medications don't lower my cholesterol, can there be other treatments that can help me?
Will my child inherit my conditions?
deal with
The goal is to lower your risk of heart disease by low-density lipoprotein cholesterol levels.
Your doctor may advise you to stick to a low-calorie diet that saturates fat cholesterol and sugar.
He may need to try a different combination of medications and treatments until he finds one that works best for you.
Since homozygous familial hypercholesterolemia raises your cholesterol to a very high level, your doctor may give you a large dose of statin. Statins stop your work in the liver to make cholesterol.
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