Symptoms Of Familial Hypercholesterolaemia
High blood cholesterol can be asymptomatic, which means the person may not even realise they have it. Some of the signs and symptoms of familial hypercholesterolaemia can include:
- family history of the disorder
- family history of heart attacks at an early age
- high LDL cholesterol levels that resist treatment in one or both parents
- cholesterol deposits on the knees, elbows and buttocks
- high blood cholesterol levels
- chest pain caused by narrowed coronary arteries
- heart attack early in life.
Few People Have Key Mutations But Those That Do Face High Risk For Coronary Artery Disease
Contact: Beth Casteel, email@example.com, 202-375-6275
Khera will be available to the media in a press conference on Sunday, April 3, 2016, at 9:30 a.m. CT/10:30 a.m. ET/2:30 p.m. UTC in Room N229.Khera will present the study, Low-density Lipoprotein Cholesterol, Familial Hypercholesterolemia Mutation Status and Risk for Coronary Artery Disease on Sunday, April 3, 2016, at 8 a.m. CT/9 a.m. ET/1 p.m. UTC in the Main Tent . ;
Can You Lower Cholesterol If Its Genetic
While high cholesterol can be tougher to take on if it’s due to FH, it can be managed. Making lifestyle changes such as adopting a cholesterol-lowering diet and increasing physical activity is the first step in lowering cholesterol.
Since FH cases are often resistant to these approaches, taking cholesterol-lowering drugs, such as statins or bile acid sequestrants, can further manage the condition. In severe cases of HoFH, pharmaceutical therapies may be supplemented with apheresis or liver transplant to normalize levels.
Don’t Miss: What Cheese Is Low In Cholesterol
What Does Familial Hypercholesterolaemia Mean
The hyper part of hypercholesterolaemia means too high. The cholesterol part simply means cholesterol, a type of fat, and aemia means in the blood. So, hypercholesterolaemia means too much cholesterol in the blood. And this can clog up your blood vessels.
The familial part of familial hypercholesterolaemia simply means it runs in families. FH is passed from parent to child in the genes, and its usually possible to trace FH back through several generations.
With FH, there is a fault in one of the genes involved in removing cholesterol from the blood.
What Types Of Familial Hypercholesterolemia Exist
There are two different kinds of FH, based on whether a variant gene copy is inherited from just one parent or both. The latter is very rare.
- Heterozygous familial hypercholesterolemia a person inherits a gene variant from one parent with the condition. Most people with FH have this type of the disease. Children with HeFH usually have LDL cholesterol levels greater than 130 mg/dL and adults greater than 190 mg/dL. LDL levels should ideally be less than 110 mg/dL in kids and less than 100 mg/dL in adults.
- Homozygous familial hypercholesterolemia a person inherits genetic variants from both parents, who both have the disorder. People with this rare type of FH usually have LDL cholesterol levels greater than 300 mg/dL for adults and above 400-500 mg/dL for children are at increased risk for heart attacks and coronary artery disease at a very young age. In general, HoFH must be treated earlier and more aggressively than HeFH.; ;
Also Check: Is Mussels High In Cholesterol
What Are The Treatments For High Cholesterol In Children And Teens
Lifestyle changes are the main treatment for high cholesterol in children and teens. These changes include
- Being more active. This includes getting regular exercise and spending less time sitting
- Healthy eating. A diet to lower cholesterol includes limiting foods that are high in saturated fat, sugar, and trans fat. It is also important to eat plenty of fresh fruits, vegetables, and whole grains.
- Losing weight, if your child or teen is overweight or has obesity
If everyone in the family makes these changes, it will be easier for your child or teen to stick to them. It is also an opportunity to improve your health, and the health of the rest of your family.
Sometimes these lifestyle changes are not enough to lower your child or teen’s cholesterol. Your health care provider may consider giving your child or teen cholesterol medicines if he or she
- Is at least 10 years old
- Has an LDL cholesterol level that is higher than 190 mg/dL, even after six months of diet and exercise changes
- Has an LDL cholesterol level that is higher than 160 mg/dL AND is at high risk for heart disease
- Has an inherited type of high cholesterol
Inherited High Cholesterol: Can Nutrition Help
“My cholesterol is too high,” a patient explained. “But I can’t help it. It’s hereditary.” She was right. Her type of high cholesterol is called familial hypercholesterolemia . It’s an inherited genetic defect that causes an abnormal amount of dangerous LDL cholesterol to accumulate in the bloodstream. This condition is fairly common, affecting an estimated 1 out of every 200 to 250 people around the world.
What’s the big deal? According to the Familial Hypercholesterolemia Foundation, a person with this disorder is 20 times more likely to develop heart disease, heart attacks and strokes at an earlier age than the general population. It affects males and females alike and can even strike young children.
Medications such as statins that help lower cholesterol in the blood are the first line of treatment for this condition. That makes some patients wonder if nutrition interventions are necessary or effective. Yes, they are. Nutrition therapy along with exercise can often prevent or delay further complication of the disease. Here are some guidelines:
Eat more anti-inflammatory foods. Heart disease is caused by inflammation within our arteries and some foods contain substances that can calm things down. Known anti-inflammatory foods include whole fruit, vegetables, garlic and tea. Fatty, cold-water fish such as salmon, tuna and sardines are also high in anti-inflammatory omega-3 fats. Reisenberg advises her patients to eat 3 to 4 ounces of fish at least twice a week.
Don’t Miss: Is Shrimp Bad For Your Cholesterol
What Is The Role Of Cholesterol In Familial Hypercholesterolemia
Cholesterol is vital for life. It is a fatty substance produced and used by the liver. It is necessary for production of hormones and bile acids of every cell in the body. The liver gets cholesterol by making it, by recycling bile, or from small particles transported in the bloodstream called lipoproteins.
Two kinds of lipoproteins carry cholesterol throughout your body:
- Low-density lipoproteins Sometimes called bad cholesterol, it can lead to a buildup in your arteries. The higher the LDL number, the greater the risk of cholesterol depositing in your arteries. This can lead to a heart attack or stroke.
- High-density lipoproteins – Known as good cholesterol, it carries cholesterol from other parts of your body back to your liver. Having high HDL may be a biomarker for protection against heart disease.
For individuals with FH , gene mutations make it impossible for their bodies to remove excess bad cholesterol form the blood stream. Over time, the elevated blood cholesterol will lead to blockages in the arteries of the heart and/or brain. The longer a person experiences high LDL cholesterol, the higher the risk for heart attacks or stroke related to these blockages.
What Are Early Signs Of Fh
When you have FH, early detection of high cholesterol levels is key to getting the treatment that can lower your risk of cardiovascular disease. In addition to family history of early cardiovascular problems, you may also notice lumps forming under your skin.
These fatty deposits are called xanthomas, and are particularly noticeable around tendons in the hands, knees, Achilles tendons and elbows, and under the skin around your eyes. Sometimes an ophthalmologist may spot signs of cholesterol deposits in your eyes as well.
Whether or not you have obvious signs of high cholesterol, you should get checked if heart disease runs in your family. Talk to your family doctor about your concerns; a simple blood test is all it takes to see if your cholesterol levels are in the healthy range. A high cholesterol level at a young age is a particular red flag that you may have FH. If your doctor suspects you have the condition, you can undergo genetic testing to confirm the diagnosis.
Recommended Reading: Pork Chops Cholesterol
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.
How Is Familial Hypercholesterolemia Inherited
inheritedEach child of a person with FH has a 50% chance of inheriting the disorder
At present, most people with FH have variants in one of three genes: LDLR gene, APOB gene, and PCSK9 gene. To date, there are over 2,000 known variants for FH.
How many mutations you inherit affects the type of FH you may have.
- One Inherited Mutation Called Heterozygous Familial Hypercholesterolemia , one abnormal mutation is passed down to a child, typically from one parent.
- Two Inherited Mutations -; When the mutation for HeFH is passed on from both parents to their children this can result in Homozygous Familial Hypercholesterolemia , the more rare and severe form of FH.
Also Check: Are Baked Potatoes High In Cholesterol
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.
Polygenic Sporadic And Multifactorial Hypercholesterolaemia
These terms have been used to describe hypercholesterolaemia of uncertain aetiology. They may occur in the absence of a positive family history , may be associated with a familial component of unclear mode of inheritance or may be interpreted as being the result of the interaction of multiple genes with a small effect . They may also result from one or more environmental factors interacting with a genetic predisposing factor or susceptibility gene . Polygenic hypercholesterolaemia is more common than FH, and importantly, tendon xanthomas are absent with this disorder.
Also Check: How Much Cholesterol In Feta Cheese
Obesity Or Large Waist Circumference
Some people are genetically predisposed toward obesity or a large waist circumference. Both can increase your risk for high cholesterol. Lifestyle factors also play a role in these two risk factors.
Obesity is defined as a body mass index of 30 or higher.
A large waist circumference is 40 or more inches for men and 35 or more inches for women. Fat that accumulates in your waist increases your risk of elevated cholesterol and other cardiovascular complications.
Genetics Of Familial Hypercholesterolaemia
Cholesterol is delivered to cells via the bloodstream. Normally, the tiny particles of LDL cholesterol attach to receptor sites on the targeted cells and are then absorbed. A gene on chromosome 19, called the LDLR gene, controls the production of these receptors. Most familial hypercholesterolaemia is due to a mutation of the LDLR gene that changes the way the receptors develop, either in number or structure. This means that LDL cholesterol is not well absorbed into cells, and remains circulating in the blood.High blood cholesterol is a risk factor in coronary artery disease, because it sticks to the artery walls, produces fatty plaques and narrows the diameter of the arteries . Less commonly, familial hypercholesterolemia is caused by a mutation on other genes, such as APOB or PCSK9.
Read Also: Are Baked Potatoes High In Cholesterol
How Do I Know If My Child Or Teen Has High Cholesterol
There is a blood test to measure cholesterol levels. The test gives information about
- Total cholesterol – a measure of the total amount of cholesterol in your blood. It includes both low-density lipoprotein cholesterol and high-density lipoprotein cholesterol.
- LDL cholesterol – the main source of cholesterol buildup and blockage in the arteries
- HDL cholesterol – HDL helps remove cholesterol from your arteries
- Non-HDL – this number is your total cholesterol minus your HDL. Your non-HDL includes LDL and other types of cholesterol such as VLDL .
- Triglycerides – another form of fat in your blood that can raise your risk for heart disease
For anyone aged 19 or younger, the healthy levels of cholesterol are
|Type of Cholesterol|
|HDL||More than 45mg/dL|
When and how often your child or teen should get this test depends on his or her age, risk factors, and family history. The general recommendations are:
- 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
Is High Cholesterol Genetic What Is Familial Hypercholesterolemia
- Some people are genetically predisposed to high cholesterol because of a condition called familial hypercholesterolemia .
- FH can be diagnosed with genetic testing and some of its symptoms include wart-like bumps on the eyelids and knees, chest pain, and sores on the toes.
- People with FH are five times as likely to develop coronary heart disease.
- This article was reviewed by;Steven Reisman, MD,;a cardiologist and the director of;New York Cardiac Diagnostic Center.;
- This article is part of Insider’s guide to High Cholesterol.;
But others are predisposed to high cholesterol from a young age, and it has little to do with their lifestyle. These people have a genetic condition called familial hypercholesterolemia, and it’s estimated that more than 90% of people with the condition haven’t been diagnosed.;
Don’t Miss: Is Wine High In Cholesterol
Causes And Risk Factors
FH arises when genes associated with producing receptors that clear LDL cholesterol from the bloodstreams are mutated. Faulty copies of four genesLDLR, LDLRAP1, APOB, or PCSK9can cause the condition, with most arising due to LDLR mutation. Your chances of developing FH are 50% if one parent has it, and 100% if both do.
Heterogenous FH, by far the most common type, arises when a faulty gene from an affected parent is paired with a healthy counterpart from the other. Only about half of the receptors that clear out LDL are present in these cases. When both parents carry the variant, homogenous FH arises, in which these receptors are entirely absent.
Globally, FH is one of the most common genetic disorders seen; however, exact estimates of prevalence are difficult because the condition often goes undetected. That said, certain populations have been found to have higher rates of inherited high cholesterol:
- Lebanese Christians
- Ashkenazi Jews
The Genetics Of High Triglycerides
Triglycerides are the main type of fat in your blood. Triglyceride is a general term for a type of lipid-containing three fatty acids bound to a glycerol. Most importantly, triglycerides are used by the body as energy and are stored in adipocytes .
Most of the time when you go to the doctor for a lipids test they are worried about higher LDL or lower HDL levels. These are classically linked to cardiovascular disease risk.; However, triglycerides also play a causal role in heart disease.
People are starting to take note of triglyceride levels as a marker of metabolic syndrome. The defining factors for metabolic syndrome include abdominal obesity, high blood pressure, high blood sugar, low HDL, and high triglycerides.
The immediate response to why do I have high triglycerides is to blame the diet and assume you are eating donuts and drinking lots of soda. While diet does play a role , your genetic variants are also very important in basal triglyceride levels.
Read Also: Is Shrimp Bad For Your Cholesterol
What Causes Familial Hypercholesterolemia
A genetic mutation within one of four well-studied genesLDLR, LDLRAP1, APOB, or PCSK9causes the disorder. The most frequent cause of FH is due to mutations found on the LDLR gene. These mutations affect production of certain proteins required for LDL particles to function properly. Its possible that other, yet unknown genetic mutations influence the development of FH.;
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.
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.
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.
Recommended Reading: Cholesterol In Potatoes