What Is Familial Hypercholesterolaemia
What is genetic high cholesterol?
Familial hypercholesterolaemia is an inherited condition which can lead to extremely high cholesterol levels. It’s passed down through families in the genes.
Without treatment, FH can lead to heart disease at a very young age. But once it’s been diagnosed, it can be treated with medicines and a healthy lifestyle.
Even if you have a very healthy lifestyle your cholesterol can be high with FH, and can become much higher than in other people. That’s because FH affects the way cholesterol is broken down in the body. Dr Jarvis explains more in this video.
How To Lower Your Bad Ldl Cholesterol
A proper diet and exercise will help improve your LDL levels. And Ill discussed these two topics in detail in a different article. But whats important to know is that as stated earlier, most of your cholesterol is made in your liver and NOTfrom the foods you eat.
Now, this doesnt mean you can go eat pizza and ice cream every day. But most people are doing the WRONG things to improve their cholesterol levels And this is why most of us arent getting the positive results we expect And were frustrated with the lack of results and sadly, we give up and take harmful medications.
I know this because this is exactly the problems I ran into with lowering my parents cholesterol, levels back in 1998.
There Are Three Main Genes Or Sets Of Genes Which Can Be Involved In Fh
Our liver cells and many other cells in our bodies have small structures attached to them called LDL receptors. They have an important job in keeping blood cholesterol down.
When LDL cholesterol in the blood passes by, it attaches to an LDL receptor which takes it into the cell. The cholesterol is used or stored for later, or broken down by liver cells. The LDL receptor then returns to the surface of the cell, ready to bind to more cholesterol in the blood.
With FH, the liver cells cant take LDL out of your blood. And this is down to faults or mutations in a few specific genes.
LDL receptor genes
Most people with FH have a fault in one of these genes. It means you dont have enough LDL receptors, so cholesterol builds up in the blood.
APOB gene
Only two or three out of every 100 people with FH have a fault with this gene. It means LDL cholesterol cant bind well to LDL receptors. LDL is taken out of the blood too slowly, and cholesterol in the blood stays high.
PCSK9 gene
Only a few people have this type of FH. A fault with this gene means that LDL receptors are broken down in the liver, so they cant take cholesterol out of your blood.
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Improving Health With Current Research
Learn about the following ways the NHLBI continues to translate current research into improved health for people who have high blood cholesterol. Research on this topic is part of the NHLBIs broader commitment to advancing heart and vascular disease scientific discovery.
Learn about some of the pioneering research contributions we have made over the years that have improved clinical care.
How Do I Know What My Ldl Level Is
A blood test can measure your cholesterol levels, including LDL. When and how often you should get this test depends on your age, risk factors, and family history. The general recommendations are:
For people who are age 19 or younger:
- The first test should be between ages 9 to 11
- Children should have the test again every 5 years
- Some children may have this test starting at age 2 if there is a family history of high blood cholesterol, heart attack, or stroke
For people who are age 20 or older:
- Younger adults should have the test every 5 years
- Men ages 45 to 65 and women ages 55 to 65 should have it every 1 to 2 years
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How Total Cholesterol Is Measured
This is done using a blood test called a lipoprotein panel, which also measures your triglycerides. For this test, you provide a blood sample thats taken after youve fasted for 9 to 12 hours before your test.
Your total cholesterol score is calculated using the equation: HDL level + LDL level + 20% of your triglyceride level.
Cholesterol Chart For Adults
According to the 2018 guidelines on the management of blood cholesterol published in the Journal of the American College of Cardiology , these are the acceptable, borderline, and high measurements for adults.
All values are in mg/dL and are based on fasting measurements.
| Total cholesterol |
|---|
Your doctor may recommend a plan of treatment for high cholesterol that includes lifestyle modifications and potentially medication. This will vary based on factors like other medications you may be taking, your age, sex, and general health.
Here are some medications more commonly prescribed for high cholesterol:
Medications can also be used to treat contributing factors to cholesterol like triglycerides. These may be used in addition to some of the medications above.
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Medical History And Physical Exam
Your doctor will ask about your eating habits, physical activity, family history, medicines you are taking, and risk factors for heart or blood vessel diseases.
During your physical exam, your doctor will check for signs of very high blood cholesterol, such as xanthomas, or signs of other health conditions that can cause high blood cholesterol.
What Is High Cholesterol
Cholesterol is a fatty substance that occurs naturally in the body. It performs several vital functions. It is needed to make the walls surrounding the body’s cells and is the basic material that is converted to certain hormones. Your body makes all the cholesterol you need. You need only a small amount of fat in your diet to make enough cholesterol to stay healthy.
The fat and cholesterol you eat are absorbed in the intestine and transported to the liver. The liver converts fat into cholesterol, and releases cholesterol into the bloodstream. There are two main types of cholesterol: low-density lipoprotein cholesterol and high-density lipoprotein cholesterol .
High levels of LDL cholesterol are linked to atherosclerosis, which is the accumulation of cholesterol-rich fatty deposits in arteries. This can cause arteries to narrow or become blocked, slowing or stopping the flow of blood to vital organs, especially the heart and brain. Atherosclerosis affecting the heart is called coronary artery disease, and it can cause a heart attack. When atherosclerosis blocks arteries that supply blood to the brain, it can cause a stroke.
People with high levels of HDL cholesterol are less likely to develop cardiovascular disease. However, if a person has both a high HDL and high LDL cholesterol level, he or she might still need treatment to lower the LDL level.
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A Faster & Easer Solution For Healthier Cholesterol Levels
There are a few ways for promoting healthier cholesterol levels within a normal, youthful range – diet and exercise being two important factors.
Unfortunately, they take time and most people are either NOT patient or need faster results, with less effort…
This is the exact problem I ran into with my own parents.
Because of this, I needed to find a simple, easy and fast solution for promoting healthier lipid levels in less than 30 days, without the use of harmful prescription drugs, worthless supplements or following a restrictive diet.
If this is something you’re also interested in, you can easily copy this “proven formula”, implement it and start seeing and feeling results within days…
What Percentage Of High Cholesterol Is Genetic
While about one in three Americans has high cholesterol, only about one in 200 adults has FH. Counting children, it affects an estimated 1.3 million Americans however, about 90% of cases are undiagnosed. A vast majority of high cholesterol cases are due to other factors, such as diet and lifestyle.
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What Are The Symptoms Of High Cholesterol
High cholesterol typically doesnt cause any symptoms. In most cases it only causes emergency events. For instance, a heart attack or stroke can result from the damage caused by high cholesterol.
These events typically dont occur until high cholesterol leads to the formation of plaque in your arteries. Plaque can narrow arteries so less blood can pass through. The formation of plaque changes the makeup of your arterial lining. This could lead to serious complications.
A blood test is the only way to know if your cholesterol is too high. This means having a total blood cholesterol level above 240 milligrams per deciliter . Ask your doctor to give you a cholesterol test after you turn 20 years old. Then get your cholesterol rechecked every 4 to 6 years.
Your doctor may also suggest you have your cholesterol checked more frequently if you have a family history of high cholesterol. Or if you demonstrate the following risk factors:
- have high blood pressure
- smoke
Take A Look At Your Lifestyle
You can make lifestyle changes to improve your cholesterol numbers.
Your body naturally produces all the LDL cholesterol it needs. An unhealthy lifestyle makes your body produce more LDL cholesterol than it needs. This is the cause of high LDL cholesterol for most people.
Behaviors that can negatively affect your cholesterol levels include:
- Unhealthy diet
- Smoking or exposure to tobacco smoke
- Being overweight or obese
How to prevent and treat high cholesterol.
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What To Do When High Cholesterol Runs In Your Family
Because high cholesterol doesnt have any symptoms, its not something thats commonly on peoples radar. Even if it is, people often dont take it seriously until they have a heart attack or stroke. And while we tend to think of those events as happening to an older population, people under the age of 55 can also be affected, especially if they were born with high cholesterol.
This condition is called familial hypercholesterolemia . FH is an inherited disorder that makes it harder for your body to remove low-density lipoprotein cholesterol from your blood. The result? From childhood, cholesterol builds up along the walls of your arteries and veins, narrowing the passageways and drastically increasing your risk of heart attack or stroke at a very early age.
How Can I Lower My Ldl Level
There are two main ways to lower your LDL cholesterol:
- Therapeutic lifestyle changes . TLC includes three parts:
- Heart-healthy eating. A heart-healthy eating plan limits the amount of saturated and trans fats that you eat. Examples of eating plans that can lower your cholesterol include the Therapeutic Lifestyle Changes diet and the DASH eating plan.
- Weight Management. If you are overweight, losing weight can help lower your LDL cholesterol.
- Physical Activity. Everyone should get regular physical activity .
- Drug Treatment. If lifestyle changes alone do not lower your cholesterol enough, you may also need to take medicines. There are several types of cholesterol-lowering drugs available, including statins. The medicines work in different ways and can have different side effects. Talk to your health care provider about which one is right for you. While you are taking medicines to lower your cholesterol, you still should continue with the lifestyle changes.
Some people with familial hypercholesterolemia may receive a treatment called lipoprotein apheresis. This treatment uses a filtering machine to remove LDL cholesterol from the blood. Then the machine returns the rest of the blood back to the person.
NIH: National Heart, Lung, and Blood Institute
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Research For Your Health
The NHLBI is part of the U.S. Department of Health and Human Services National Institutes of Health the Nations biomedical research agency that makes important scientific discoveries to improve health and save lives. We are committed to advancing science and translating discoveries into clinical practice to promote the prevention and treatment of heart, lung, blood, and sleep disorders, including high blood cholesterol. Learn about current and future NHLBI efforts to improve health through research and scientific discovery.
What Medications Are Used For Hyperlipidemia
People who need medicine to treat their high cholesterol usually take statins. Your provider may order a different type of medicine if:
- You cant take a statin.
- You need another medicine in addition to a statin.
- You have familial hypercholesterolemia, a genetic problem that makes your bad cholesterol number extremely high.
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Why Do We Need Cholesterol
Cholesterol plays a vital role in how your body works. There is cholesterol in every cell in your body, and it’s especially important in your brain, nerves and skin.
Cholesterol has three main jobs:
- Its part of the outer layer, or membrane, of all your bodys cells
- Its used to make vitamin D and steroid hormones which keep your bones, teeth and muscles healthy
- Its used to make bile, which helps to digest the fats you eat
What Is Hyperlipidemia
Hyperlipidemia, also known as dyslipidemia or high cholesterol, means you have too many lipids in your blood. Your liver creates cholesterol to help you digest food and make things like hormones. But you also eat cholesterol in foods from the meat and dairy aisles. Since your liver can make as much cholesterol as you need, the cholesterol in foods you eat is extra.
Too much cholesterol is not healthy because it can create roadblocks in your artery highways where blood travels around to your body. This damages your organs. Bad cholesterol is the most dangerous type because it causes hardened cholesterol deposits to collect inside of your blood vessels. This makes it harder for your blood to get through, which puts you at risk for a stroke or heart attack.
Think of cholesterol, a kind of fat, as traveling in lipoprotein cars through your blood.
Its important to know that providers consider other factors in addition to your cholesterol numbers when they make treatment decisions.
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How Is It Broken Down
Once in the blood stream, some cholesterol will be returned to the liver and broken down. Its used to make bile acids which are released into the intestines to help with digestion bile acids break down the fats in food.
A small amount of bile acids will be removed from the body as a waste product in your poo. But most will be absorbed back into the blood, returned to the liver and used again for digestion.
Some treatments for high cholesterol work by stopping bile from being absorbed back into the blood. The liver has to take more cholesterol out of the blood to make more bile, lowering your cholesterol levels.
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Natural Treatments For High Cholesterol
In addition to lifestyle changes and medication, some foods and supplements can help reduce cholesterol levels, research shows. Its important to note that no natural food or supplement has been proven more effective than most cholesterol medications. Talk with your doctor before adding any supplement or alternative treatment to your routine.
Natural products that can be effective in lowering cholesterol include:
- Flaxseed, which studies show may help lower cholesterol when consumed as whole flaxseed or flaxseed lignans. Flaxseed oil has not been shown to have a significant effect on cholesterol levels. Pregnant women should avoid flaxseed as it may cause hormonal changes.
- Garlic supplements, which one study found lowered overall cholesterol and LDL cholesterol by 10% when taken for more than two months.
- Green tea, which may have moderate benefits for reducing overall cholesterol and LDL cholesterol levels. However, studies have not shown any effect of green tea on increasing HDL cholesterol.
- Oats, which have consistently been shown to help lower total and LDL cholesterol, particularly in people who start with very high cholesterol levels.
- Soy foods, which have been shown to have a small effect on lowering cholesterol levels.
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How Can I Reduce My Risk Of Hyperlipidemia
Even children can get their blood checked for high cholesterol, especially if someone in the childs family had a heart attack, stroke or high cholesterol. Children and young adults can get checked every five years.
Once you reach middle age, you should have your cholesterol checked every year or two. Your healthcare provider can help you decide how often you should have a hyperlipidemia screening.
Can High Cholesterol Be Prevented Or Avoided
Making healthy food choices and exercising are two ways to reduce your risk of developing high cholesterol.
Eat fewer foods with saturated fats . Choose healthier fats. This includes lean meats, avocados, nuts, and low-fat dairy items. Avoid foods that contain trans fat . Look for foods that are rich in omega-3 fatty acids. These foods include salmon, herring, walnuts, and almonds. Some egg brands contain omega-3.
Exercise can be simple. Go for a walk. Take a yoga class. Ride your bike to work. You could even participate in a team sport. Aim to get 30 minutes of activity every day.
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What Should My Cholesterol Levels Be
Blood cholesterol is measured in units called millimoles per litre of blood, often shortened to mmol/L.
As a general guide, total cholesterol levels should be:
- 5mmol/L or less for healthy adults
- 4mmol/L or less for those at high risk
As a general guide, LDL levels should be:
- 3mmol/L or less for healthy adults
- 2mmol/L or less for those at high risk
An ideal level of HDL is above 1mmol/L. A lower level of HDL can increase your risk of heart disease.
Your ratio of total cholesterol to HDL may also be calculated. This is your total cholesterol level divided by your HDL level. Generally, this ratio should be below four, as a higher ratio increases your risk of heart disease.
Cholesterol is only one risk factor. The level at which specific treatment is required will depend on whether other risk factors, such as smoking and high blood pressure, are also present.