We all talk about cholesterol all the time, and we worry about it, don't we? But think about it, have you ever heard of a hereditary disease in which cholesterol levels are abnormally high since childhood, perhaps even in childhood? Today we will talk about one such rare but very important disease. This is called Homozygous Familial Hypercholesterolemia (HoFH). Although the name is a bit complicated, let's understand it simply.
What is Homozygous Familial Hypercholesterolemia?
Simply put, this is a genetic disease that makes it difficult for our body to remove the "bad" cholesterol, that is, LDL (Low-Density Lipoprotein) cholesterol, from our blood. We all know that cholesterol is a waxy substance that our cells need. The job of LDL cholesterol is to carry this cholesterol throughout the body through the blood.
But when LDL levels get too high, this extra cholesterol starts to build up in the blood vessels that supply blood to our heart, the arteries. Over time, these deposits can block the arteries, cutting off blood and oxygen to the heart, and increasing the risk of a heart attack .
This disease is congenital. This means that you can have high cholesterol since childhood. This is a serious condition that cannot be cured and must be managed throughout life.
If left untreated, men with this condition can develop heart disease in their 40s and women in their 50s. Therefore, it is extremely important to be aware of this and seek proper treatment.
What is the reason for this?
We call this a genetic disease. Strictly speaking, you only get this disease if you inherit two copies of a gene that doesn't work properly, one from your mother and one from your father .
Normally, our liver removes excess LDL cholesterol from the blood. The liver has special 'LDL receptors' for this. These are like magnets that grab cholesterol and remove it from the blood. But in someone with this disease, due to the inherited defective gene, these receptors do not work properly. The result is that cholesterol levels rise uncontrollably.
You may have also heard of 'Heterozygous' Familial Hypercholesterolemia. This is when the defective gene is inherited from only one parent. This condition is not as severe as 'Homozygous'.
What are the symptoms of this disease?
There are several main symptoms that can be used to identify this disease. Let's look at them in a table.
| Characteristic | Description |
|---|---|
| Very high cholesterol level | Total cholesterol levels can be 600 mg/dL or higher (a healthy level is less than 200). |
| Skin deposits (Xanthomas) | Yellow, waxy lumps under the skin on the elbows, knees, and buttocks. These are cholesterol deposits. |
| Deposits on the eyelids (Xanthelasmas) | Yellow fatty deposits on the eyelids. |
| Eye changes (Arcus cornealis) | A gray or white ring around the black eye. |
| Heart symptoms | Symptoms such as chest pain (angina), shortness of breath, and rapid heartbeat can occur at a young age. |
How to diagnose the disease?
If you have these symptoms, it's important to see your doctor. The doctor will first do a physical exam and ask you a few questions.
- Have you noticed anything like yellow spots on your skin?
- Do you have chest pain?
- Are you feeling short of breath?
- Do your parents also have high cholesterol?
Then, your doctor will do a blood test to check your cholesterol levels. They may also do a genetic test to see if you have the faulty gene that causes the disease. Your doctor may also test your close family members.
Treatment methods and management
The main goal of treatment is to lower your LDL cholesterol levels and reduce your risk of heart disease . You will often be referred to a doctor who specializes in cholesterol problems (a lipidologist).
Changes in lifestyle and diet
The first step is to adopt a heart-healthy diet that is low in saturated fat, cholesterol, and sugar. It is also important to quit smoking, limit alcohol, and exercise daily.
Medicines
Because your cholesterol levels are abnormally high, you may be started on high doses of statins , which work by stopping the liver from producing cholesterol.
Along with that, other medications that reduce the amount of cholesterol absorbed from food (e.g. Ezetimibe , PCSK9 inhibitors , Lomitapide ) can be added.
Specific treatments
If cholesterol cannot be controlled with medication alone, other treatment methods will have to be considered.
- Apheresis: This is a procedure similar to dialysis for kidney patients. You are connected to a machine in a hospital, your blood is taken out of your body, the LDL cholesterol is filtered out, and the cleaned blood is returned to your body. This is a treatment that takes several hours and needs to be done regularly.
- Liver Transplant: If none of the above treatments are successful, a liver transplant may be the last resort. The new healthy liver has LDL receptors, which can help control cholesterol. This is a very serious surgery, and recovery can take 6 months to a year.
When undergoing such serious treatment, it is very important to seek emotional support from family and friends. Talk openly about this with your doctor.
Take-Home Message
- Homozygous Familial Hypercholesterolemia is a serious, but rare, genetic condition that causes very high cholesterol levels.
- This is because they inherit two defective genes from both their mother and father.
- By identifying and starting treatment at an early age, the risk of heart disease at a young age can be reduced.
- Treatment is lifelong and may include medication, diet, exercise, and possibly specialized treatment (apheresis).
- If someone in your family has had heart disease or high cholesterol at a young age, it is wise for you to have your cholesterol checked as advised by your doctor.
- You are not alone in this journey. Work with your doctor, family, and support groups to successfully manage this condition.
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