A Life Threat Passed From Family - Hypercholesterolemia
People inherit different things from their families. Some folks inherit land and wealth, while the unluckiest of the batch inherit some genetic disease.
One of the rarest of these genetic illnesses is Hypercholesterolemia.
A Guide to Hypercholesterolemia
Hypercholesterolemia is also known as Familial hypercholesterolemia and pure hypercholesterolemia.
About 1 in 250 people suffer from hypercholesterolemia. It is not caused by lifestyle choices but is caused by a genetic anomaly. People are generally unable to diagnose it as it does not present any symptoms.
Table of Content
- Guide to Hypercholesterolemia
- what is hypercholesterolemia?
- What is the leading cause of hypercholesterolemia?
- Two types of Familial Hypercholesterolemia
- Symptoms of hypercholesterolemia
- How does hypercholesterolemia affect the body?
- Can hypercholesterolemia be cured?
- What is the best treatment for hypercholesterolemia?
What is Hypercholesterolemia?
It is a genetically inherited condition in which the body cannot get rid of bad cholesterol from an early age. Not being able to get rid of LDL, i.e., bad cholesterol increases the risk of heart disease and a heart attack.
It is not directly related to high cholesterol levels or highly fatty food.
What is the Main Cause of Hypercholesterolemia?
The parents pass on hypercholesterolemia to their children due to genetic mutation.
As we know that the liver is responsible for producing good cholesterol in the body, this is important for healthy functioning. In addition, high-density lipoprotein (HDL) cholesterol helps the body preserve healthy cell walls.
However, a person who has the familial hypercholesterolemia gene cannot regulate cholesterol levels or recycle cholesterol. Due to this, bad cholesterol builds up and sticks to the bloodstream, increasing the risk of heart disease.
Two Types of Familial Hypercholesterolemia
- Heterozygous Familial Hypercholesterolemia: Denoted as (HeFH), this type happens when a person inherits the FH gene from one of their parents.
- Homozygous Familial Hypercholestrolemia: Denoted (HoFH), this type is when a person inherits the FH genes from both parents. This condition is rarer than HeFH.
The condition is more severe in people with HoFH. They also experience much more severe symptoms.
Symptoms of Hypercholesterolemia
Unlike the regular folks suffering from high cholesterol, which is impacted by lifestyle and food choices, FH is present from birth. It does not present any symptoms or signs at an early age.
Some symptoms that might start appearing in folks suffering from this condition are as follow-
- Bumps on skin: Tiny bumps might start showing up on your skin around your hand, elbow, and knees.
- Xanthomas: These are cholesterol deposits that are similar to bumps but also appear waxy. It can also start depositing around tendons.
- Eyes: Tiny bumps around and under the eye are a tell-tale sign of high cholesterol. In addition, some may notice a gray ring around the eye's iris. It is common in older age folk and is an indication of FH.
How Does Hypercholesterolemia Affect the Body?
People suffering from hypercholesterolemia have high harmful cholesterol levels present in their blood. This bad cholesterol, known as low-density lipoprotein present in the bloodstream, builds up around the arteries and makes blood circulation difficult.
This bad cholesterol makes the arteries narrower and more complex. All of this negatively impacts the heart. In addition, due to the arteries being thinner, the heart needs to put more effort into pumping blood effectively.
Over time this constant pressure on the heart can lead to heart failure. Another way hypercholesterolemia can lead to heart attack is when cholesterol deposits break and form clots.
People suffering from this condition are more likely to die at a younger age. The chances of heart disease are also higher. If the situation goes undiagnosed and untreated, it can cause death before 20.
Can Hypercholesterolemia be Cured?
There is no cure for getting free of hypercholesterolemia permanently, but with effective treatment, it is controllable. The perfect remedy for the condition is reducing the levels of bad cholesterol. Adequate treatment can reduce the chances of dying at a young age and heart disease.
What is the Best Treatment for Hypercholesterolemia?
It is very likely for someone suffering from this condition to be on medicated treatment to control their cholesterol levels.
Your doctor might put you on two medications at the same time. The complexity of the condition makes the treatment challenging as well. It is to be noted that a good course of medication can lower the risk of heart disease and death.
Your doctor might use medications for treatment that are
- Statins: Statins are commonly used drugs to eliminate the production of cholesterol in the body. These drugs block a substance that effectively stops the liver from producing cholesterol.
- Ezetimibe (Zetia): Your doctor may recommend this if the statins are misfunctioning, being unable to reduce the cholesterol level. Ezetimibe stops the body from absorbing cholesterol from the food we eat.
- PCSK9 inhibitors: These drugs are routinely injected into the body. Alirocumab (Praluent) and evolocumab (Repatha) are newer drugs that help the liver absorb bad cholesterol. Unfortunately, these drugs are costly.
Folk with a more severe condition may go for the LDL-apheresis procedure. This procedure is performed weekly or twice a week.
The doctor may suggest you a liver transplant in the worst-case scenario where nothing seems to work.
Lifestyle changes can help control and moderate cholesterol levels. It can help you lead an overall practical everyday life as well. Some of the critical things to add to your routine are as follows.
- Exercising every day: Try exercising for about 30 minutes five to six times a week. Be active as your routine allows you. Try to incorporate exercise into your routine slowly. Do not go overboard.
- Healthy diet: Try to eat a fiber-rich diet and avoid eating items high in trans fat and saturated fats.
- Quit Substance use: Smoking and drinking can worsen your condition severely if you have hypercholesterolemia. This is because smoking can exacerbate the conditions of your arteries and make blood circulation even harder.
- Managing overall health: It is vital to manage any other health condition which can parallelly cause more damage to your body. For example, high blood pressure and diabetes are known to increase cholesterol. Therefore, it is better to keep clear of these two.
High cholesterol levels alone do not suggest that you are experiencing hypercholesterolemia. However, suppose these high cholesterol levels are not in control by making lifestyle changes. Then, if your family also experienced the same heart disease, you should get screened.
Apart from this, monitoring and checking cholesterol levels now and then is a good idea. With effective treatment and care, hypercholesterolemia is controllable.