Familial Hypercholesterolemia ( Disease & Conditions, Treatments & Procedures , Symptoms )
A genetic condition known as familial hypercholesterolemia (FH) is characterized by elevated blood levels of the low-density lipoprotein (LDL) cholesterol. LDL cholesterol, which can build up in the arteries and raise the risk of heart disease and stroke, is frequently referred to as “bad” cholesterol. Mutations in one of the several genes in charge of controlling blood levels of LDL cholesterol result in FH.
Since FH is a hereditary condition, it is passed down from parents to offspring. People with FH are more likely than those without the condition to experience a stroke or heart disease at a younger age. The prevalence of FH is thought to be 1 in 250 people worldwide.
FH is often treated with medicine to decrease cholesterol levels as well as dietary and activity modifications that promote a healthy heart. Heart disease can be prevented or delayed with early identification and treatment, which can also improve outcomes for FH patients.
This article covers the following topics :
Familial hypercholesterolemia: What is it?
A genetic condition known as familial hypercholesterolemia (FH) alters how the body handles cholesterol. It is brought on by mutations in one of the several genes in charge of controlling blood cholesterol levels, such as the PCSK9, LDLR, and apolipoprotein B (APOB) genes. Increased blood levels of low-density lipoprotein (LDL), also known as “bad” cholesterol, are caused by these mutations. LDL cholesterol can accumulate in the arteries, causing atherosclerosis to form and raising the risk of heart disease and stroke.
Since FH is a hereditary condition, it is passed down from parents to offspring. There is a 50% probability that a child will inherit FH if one parent has the condition. The risk rises to 75% when both parents have FH. The prevalence of FH is thought to be 1 in 250 people worldwide.
Depending on the particular genetic mutation, as well as other elements including lifestyle and other medical conditions, the severity of FH might vary. Two to three times higher than average LDL cholesterol levels and other lipid abnormalities, such as high triglyceride levels and low levels of high-density lipoprotein (HDL) cholesterol, may be present in people with FH.
The development of heart disease brought on by the buildup of cholesterol in the arteries may delay the onset of FH symptoms until later in life. Chest pain, breathlessness, and exhaustion are a few signs of heart disease. Xanthomas, cholesterol deposits that can manifest as yellowish lumps or plaques on the skin, can also develop as a result of FH.
A blood test to evaluate cholesterol levels and genetic testing to determine the exact genetic mutation are frequently used in the diagnosis of FH. The severity of atherosclerosis in the arteries may occasionally be assessed using imaging procedures like an echocardiography or a CT scan.
FH is often treated with medicine to decrease cholesterol levels as well as dietary and activity modifications that promote a healthy heart. Statins, which stop the liver from producing cholesterol, are among the medications used to treat FH. Other medications like ezetimibe and PCSK9 inhibitors can also help lower LDL cholesterol levels.
FH patients may occasionally need more severe therapies like LDL apheresis, which involves extracting LDL cholesterol from the blood using a specialized equipment. In extremely rare circumstances, patients with severe FH who do not react to other treatments may be given the option of a liver transplant.
To stop or delay the onset of heart disease and improve outcomes for afflicted people, early identification and treatment of FH are crucial. People with a family history of high cholesterol or heart disease should be screened for FH, as well as those who have particular physical traits like xanthomas or an arcus senilis (a white ring around the eye’s iris).
Familial hypercholesterolemia: How widespread is it?
Around 1 in 200 to 1 in 500 people worldwide have the hereditary condition familial hypercholesterolemia, which is rather common. It occurs more frequently in some groups, such as those who are French Canadian or of Ashkenazi Jewish heritage, where the prevalence might reach 1 in 67 people. Both sexes are equally affected by familial hypercholesterolemia.
What effects does family high cholesterol have on your body?
A genetic condition known as familial hypercholesterolemia (FH) impairs the body’s capacity to eliminate cholesterol from the blood. Low-density lipoprotein (LDL) cholesterol, sometimes referred to as “bad” cholesterol, is present in high levels in people with FH. This “bad” cholesterol can cause fatty deposits to form in the arteries, raising the risk of heart disease and stroke.
The LDL receptor, a protein on the surface of cells that aids in the removal of LDL cholesterol from the blood, is produced by genes that are mutated to cause FH. Due to the changes, the LDL receptor is less efficient in eliminating LDL cholesterol, which causes it to build up in the blood and cause atherosclerosis.
Heart disease is more likely to strike those with FH at a younger age than it does the general population. FH can cause heart attacks, strokes, and other cardiovascular issues if it is not addressed. Therefore, controlling the illness and lowering the risk of cardiovascular disease depend heavily on early detection and treatment.
What signs or symptoms might there be of familial hypercholesterolemia?
Because familial hypercholesterolemia (FH) is frequently asymptomatic, affected people may not exhibit any symptoms until they suffer the condition’s repercussions, such as cardiovascular disease. However, some FH sufferers may exhibit xanthomas, or visible evidence of cholesterol accumulation under the skin. Small, raised, yellowish or whitish lumps on the skin, particularly near the eyes, elbows, knees, and buttocks, may be present.
During a physical examination, a corneal arcus, also known as yellowish cholesterol deposits in the eye’s corneas, can be detected in certain people with FH. This discovery, though, is not unique to FH and can happen in other circumstances as well.
It is crucial to remember that despite the genetic mutation, many people with FH may have normal cholesterol levels. As a result, genetic testing is frequently required to validate the diagnosis and choose the best course of action.
What triggers inherited high cholesterol?
Mutations in the genes that govern the synthesis and operation of the low-density lipoprotein (LDL) receptor, a protein on the surface of cells that aids in the removal of LDL cholesterol from the blood, are the root cause of familial hypercholesterolemia (FH). LDL cholesterol in the blood is bound by the LDL receptor, allowing it to enter cells where it is broken down and excreted from the body.
LDL receptor gene mutations can reduce the receptor’s capacity to remove LDL cholesterol from the blood, causing LDL cholesterol to build up and atherosclerosis to develop. Some people have a lesser type of FH, whilst others have a more severe variant, depending on the severity of the mutations.
Since FH is an autosomal dominant condition, anyone can get it by inheriting just one copy of the defective gene from one parent. A person may develop a more severe form of the illness if they have a defective gene from both parents.
Because FH is a hereditary condition, it runs in families. As a result, someone who has FH in their family may be more likely to get the condition themselves.
What forms of familial hypercholesterolemia are there?
Familial hypercholesterolemia (FH) comes in a variety of forms that are categorized according to the underlying genetic abnormalities and how they affect the LDL receptor’s ability to function. The primary varieties of FH include:
1-Heterozygous FH: Making up around 95% of cases, this is the most prevalent kind of FH. It happens when a person receives one normal gene and one mutant gene for the LDL receptor from each of their parents. People with heterozygous FH have high blood levels of LDL cholesterol and are more likely to experience cardiovascular disease at a young age.
2-Homozygous FH: A person with this condition inherits two faulty LDL receptor genes, one from each parent, making it more severe and uncommon. Homozygous FH patients have extraordinarily high blood levels of LDL cholesterol and are at extremely high risk of cardiovascular disease, frequently in childhood or adolescence.
3-Compound heterozygous FH: A person who inherits two distinct mutant LDL receptor genes, one from each parent, develops this uncommon form of FH.
4- Autosomal recessive hypercholesterolemia: This uncommon type of FH is brought on by mutations in genes other than the LDL receptor gene. It is inherited in an autosomal recessive pattern, which means that in order to be affected, a person must inherit two copies of the defective gene, one from each parent.
Familial hypercholesterolemia: How is it identified?
The main methods for diagnosing familial hypercholesterolemia (FH) include clinical assessment, family history, and laboratory testing. Some of the tests that may be performed to identify FH include the following:
1-A blood test called a lipid profile evaluates the blood’s levels of triglycerides and cholesterol. LDL cholesterol is frequently very high in people with FH.
2-Genetic analysis: A blood test that can find gene mutations linked to FH. Genetic testing can assist identify family members who could be at risk of getting FH and confirm the diagnosis of the illness.
3-Physical examination: A healthcare professional may carry out a physical examination to check for symptoms of FH, such as yellowish cholesterol deposits under the skin (xanthelasma) or around the eyes (xanthomas).
4-Family history: Because FH is an inherited issue, a medical professional may inquire about the family’s history of high cholesterol or cardiovascular disease.
5-Coronary calcium scan: A non-invasive procedure that use computed tomography (CT) to assess the calcium content of the heart’s arteries. In those with FH, this test can assist determine whether atherosclerosis (plaque formation) is present and how severe it is.
Additional tests may be performed if FH is suspected to determine the degree of atherosclerosis and the likelihood of developing cardiovascular disease.
What diagnostic procedures will be used to identify familial hypercholesterolemia?
Your healthcare provider may run a number of tests to determine whether you have familial hypercholesterolemia (FH), including:
1-Lipid profile: This blood test evaluates the blood’s levels of triglycerides and cholesterol. LDL cholesterol is frequently very high in people with FH.
2-Genetic analysis: A blood test that can find gene mutations linked to FH. Genetic testing can assist identify family members who could be at risk of getting FH and confirm the diagnosis of the illness.
3-Physical examination: Your healthcare provider may carry out a physical examination to check for symptoms of FH, such as yellowish cholesterol deposits under the skin or around the eyes (xanthomas).
4-Family history: Because FH is an inherited issue, your doctor may inquire about your family’s history of high cholesterol or cardiovascular disease.
5-Coronary calcium scan: A non-invasive procedure that use computed tomography (CT) to assess the calcium content of the heart’s arteries. In those with FH, this test can assist determine whether atherosclerosis (plaque formation) is present and how severe it is.
Additional tests may be performed if FH is suspected to determine the degree of atherosclerosis and the likelihood of developing cardiovascular disease.
What is the treatment for familial hypercholesterolemia?
Treatment for familial hypercholesterolemia (FH) often involves both medication and dietary adjustments. Lowering LDL cholesterol levels and lowering the risk of cardiovascular disease are the targets of treatment.
Alterations in way of life
1-Diet: Lowering LDL cholesterol levels can be accomplished by following a heart-healthy diet low in saturated and trans fats.
2-Exercise: Engaging in regular exercise can lower cholesterol and lower the risk of cardiovascular disease.
3-Weight control: Keeping a healthy weight can lower cholesterol and lower the chance of developing cardiovascular disease.
Medications:
1-Statins: People with FH frequently use these drugs to decrease their LDL cholesterol levels. Statins function by inhibiting a liver enzyme that makes cholesterol.
2-Ezetimibe: This drug reduces LDL cholesterol levels and can be used alone or in conjunction with a statin.
3-PCSK9 inhibitors: These more recent pharmaceuticals work by inhibiting a liver protein that controls the creation of cholesterol to lower LDL cholesterol levels.
4-Bile acid sequestrants: These drugs can reduce LDL cholesterol levels when used with a statin.
FH patients occasionally need extra therapies including liver transplants or blood filtering techniques like apheresis. In order to detect and treat FH early, family members of those with the disorder could also require genetic testing and routine cholesterol screenings.
What foods are prohibited from my diet if I have familial hypercholesterolemia?
Limiting your intake of foods high in saturated and trans fats is crucial if you have familial hypercholesterolemia since they can raise your LDL cholesterol levels and raise your risk of cardiovascular disease. You should limit or stay away from the following foods:
1-Fatty meats: Because they are heavy in saturated fats, beef, hog, and lamb should only be eaten seldom.
2-Processed meats: Sausage, bacon, and other processed meats should be consumed in moderation because they are high in saturated and trans fats.
3-Dairy items: Because they are high in saturated fats, full-fat dairy items like cheese, butter, and cream should only be consumed seldom.
4-Fried foods: Because they are high in trans fats, fried meals like French fries and fried chicken should be avoided.
5-Snack foods: Since chips, crackers, and other snack foods are frequently high in saturated and trans fats, they should only be eaten occasionally.
It’s crucial to concentrate on eating a heart-healthy diet with lots of fruits, vegetables, whole grains, and lean meats like fish and fowl. Limiting your consumption of processed foods and sugary foods is particularly crucial because they can raise your risk of cardiovascular disease.
Which drugs are prescribed for familial hypercholesterolemia?
The following medicines are frequently used to treat familial hypercholesterolemia:
1-Statins: An enzyme in the liver that produces cholesterol is blocked by a class of medications known as statins. They significantly cut LDL cholesterol levels and lower the chance of developing cardiovascular disease.
2-Ezetimibe: Ezetimibe is a medication that prevents cholesterol from being absorbed in the small intestine. It frequently works better when used with a statin to reduce LDL cholesterol levels.
3-PCSK9 inhibitors: A more recent family of medications, PCSK9 inhibitors target a protein that lowers the number of LDL receptors in the liver. As a result, there is an increase in the removal of LDL cholesterol from the circulation.
4-Bile acid sequestrants: These medications inhibit the absorption of bile acids by binding to them in the small intestine, which forces the liver to use more cholesterol to create new bile acids. Lower LDL cholesterol levels may result from this.
5-Niacin: Studies have indicated that niacin, a B vitamin, lowers LDL cholesterol and raises HDL cholesterol. It frequently works best when combined with other cholesterol-lowering medications.
Based on your unique medical history and cholesterol levels, your healthcare practitioner will work with you to choose the optimal drug or drug combination to treat your familial hypercholesterolemia. It’s crucial to take your meds exactly as directed and to bring up any adverse effects or worries with your doctor.
How is heterozygous familial hypercholesterolemia treated?
One copy of the defective gene linked to heterozygous familial hypercholesterolemia (HeFH), a kind of familial hypercholesterolemia, was passed down from one parent to the other. HeFH is often treated with medication and lifestyle changes.
A heart-healthy diet, frequent exercise, quitting smoking, and limiting alcohol intake are a few examples of lifestyle changes. The consumption of fruits, vegetables, whole grains, lean protein, and heart-healthy fats like omega-3 fatty acids should all be increased while saturated and trans fats should be decreased.
Statins, which are cholesterol-lowering medications that prevent the liver from producing cholesterol, are used to treat HeFH, as well as ezetimibe, a drug that prevents the small intestine from absorbing cholesterol from food. To further reduce cholesterol levels, additional drugs can be taken in addition to statins and ezetimibe, such as bile acid sequestrants and PCSK9 inhibitors.
HeFH may occasionally need more aggressive treatment, including LDL apheresis, which involves removing LDL cholesterol from the blood. Usually, only those with exceedingly high cholesterol levels or those who have not reacted well to prior medications should receive this treatment.
What negative effects might the treatment for familial hypercholesterolemia cause?
Statins and PCSK9 inhibitors, two drugs used to treat familial hypercholesterolemia, may cause negative effects. The most typical statin side effects are muscle discomfort, weakness, and abnormalities in the liver enzymes. Some persons who use PCSK9 inhibitors may experience allergic reactions, flu-like symptoms, and injection site reactions.
Rarely, statins can have severe side effects such liver damage and rhabdomyolysis (severe muscular breakdown). Additionally, PCSK9 inhibitors may raise the chance of neurocognitive problems like disorientation or memory loss.
When taking these medications, it’s crucial to communicate any possible side effects with your doctor and to report any symptoms that might appear. In order to monitor liver function and muscle deterioration while you take these medications, your doctor may additionally request blood testing.
How is homozygous familial hypercholesterolemia managed?
The problem is more severe in homozygous familial hypercholesterolemia, which frequently necessitates more rigorous therapy. Medication therapy is frequently necessary in addition to dietary and activity changes that promote heart health.
To achieve the best cholesterol-lowering effects, it may occasionally be necessary to take several different drugs together. High-dose statins, PCSK9 inhibitors, bile acid sequestrants, and/or other drugs like mipomersen or lomitapide may fall under this category.
The removal of LDL cholesterol from the blood may occasionally be accomplished by a process known as LDL apheresis. Similar to dialysis, this procedure includes filtering the blood to get rid of LDL cholesterol particles. Patients who have severe, uncontrolled cholesterol levels despite receiving the most effective medical treatment often need LDL apheresis.
The medications used to treat homozygous familial hypercholesterolemia may have side effects, just like any other treatment. In addition to reporting any symptoms or side effects that may develop while taking these medications, it is crucial to discuss the risks and advantages of the treatment with your doctor.
How can I lower my chance of having inherited high cholesterol?
Unfortunately, there is no way to totally prevent familial hypercholesterolemia if it runs in your family because it is a genetic disorder. To manage your cholesterol levels if you have been diagnosed with the condition or to help lower your risk of getting cardiovascular disease, there are several lifestyle adjustments you may do. These consist of:
1-Maintaining a heart-healthy diet entails cutting back on saturated and trans fats while upping your intake of fresh produce, whole grains, lean proteins, and low-fat dairy goods.
2-Regular exercise can help lower cholesterol and lower your risk of heart disease. Aim for at least 30 minutes per day of moderate-intensity aerobic activity, such as brisk walking or cycling.
3-Quitting smoking: Given that smoking is a significant risk factor for heart disease, giving up the habit is one of the finest things you can do for your health.
4-Maintaining a healthy weight: Maintaining a healthy weight through diet and exercise is crucial since being overweight or obese can raise your cholesterol levels and increase your risk of heart disease.
5-Controlling other medical issues: If you have other medical issues, including diabetes or high blood pressure, controlling them well can lower your risk of developing heart disease.
If I have familial hypercholesterolemia, what can I anticipate?
Working closely with your healthcare practitioner will help you manage your cholesterol levels and lower your chance of getting heart disease if you have familial hypercholesterolemia. Many persons with familial hypercholesterolemia can lead active, healthy lives with the right care and lifestyle adjustments.
Familial hypercholesterolemia is a genetic disorder, so if you have it, your children and other family members could be at higher risk. It is crucial to discuss genetic testing and family screening with your healthcare professional. It is feasible to lower the risk of consequences from familial hypercholesterolemia with early identification and therapy.
How does familial hypercholesterolemia manifest?
The prognosis for people with familial hypercholesterolemia (FH) varies depending on how severe the problem is and how well the treatment works. FH increases the chance of developing early cardiovascular disease, such as heart attack and stroke, if it is not addressed. However, the likelihood of these consequences can be significantly decreased with adequate diagnosis, monitoring, and treatment.
Individuals with FH are capable of leading regular, healthy lives with early diagnosis and efficient treatment. It’s critical to follow the lifestyle recommendations, which include following a balanced diet and exercise routine and taking medications as directed by a doctor. It’s crucial to routinely evaluate cholesterol levels and other cardiovascular risk factors.
The future can be less good in situations with homozygous FH, which is more uncommon and severe than heterozygous FH. It may be more challenging to control and may require more rigorous treatment. Individuals with homozygous FH can still live relatively normal lives with the right medical attention and lifestyle changes.
How should I care for myself because I have hereditary high cholesterol?
There are steps you can take to take care of yourself and manage the condition if you have familial hypercholesterolemia:
1-Maintain a healthy diet: Eating a balanced diet can help lower cholesterol levels in the body. Choose foods high in fiber and good fats instead of saturated and trans fats, such as fruits, vegetables, whole grains, and lean proteins.
2-Exercise frequently: Physical activity is a great way to lower cholesterol, protect the heart, and control weight. Aim for 150 minutes or more per week of moderate-intensity exercise.
3-Always follow the directions on your prescriptions if your doctor has prescribed them to you if you have familial hypercholesterolemia. These drugs can help lower cholesterol levels and the risk of developing heart disease.
4-Get routine check-ups: Having regular check-ups with your doctor will help you keep an eye on your blood pressure, cholesterol, and other health indicators.
5-Stop smoking: Smoking can raise cholesterol levels and harm blood arteries, which increases the chance of developing heart disease. Putting an end to smoking can benefit your general health.
6-Manage other health concerns: Be sure to take care of any additional medical conditions you may have, such as diabetes or high blood pressure. Heart disease and other familial hypercholesterolemia-related consequences are at an increased risk under these circumstances.
When should I schedule a family history of high cholesterol appointment with my doctor?
If you have a family history of high cholesterol or heart disease, you should visit your doctor. Additionally, you should visit your doctor if you experience any signs of elevated cholesterol including palpitations, shortness of breath, or chest pain. If you have a history of familial hypercholesterolemia, especially if a first-degree cousin has the disease, it is crucial to get regular cholesterol checks. In order to control your cholesterol levels, your healthcare professional might also give you information on dietary adjustments and medical procedures.
When should someone with familial hypercholesterolemia visit the emergency room?
Being a chronic disorder, familial hypercholesterolemia is not frequently regarded as an emergency. However, complications requiring urgent medical care, such as a heart attack or stroke, can occasionally occur in people with familial hypercholesterolemia. Seek emergency medical help right away if you suffer symptoms like chest pain, shortness of breath, sudden weakness or numbness, speaking trouble or slurred speech, or any other alarming symptoms. To keep track of your cholesterol levels and general health, it’s crucial to visit your doctor on a frequent basis.
What concerns about familial hypercholesterolemia should I raise with my doctor?
Here are some queries you might wish to put to your doctor if you have familial hypercholesterolemia or think you could have it:
1-What kind of familial hypercholesterolemia do I have and what does this mean?
2-What are my available treatment options, and what are the advantages and dangers of each?
3-Can I alter my way of life in any way to better manage my condition?
4-Are there any dietary guidelines I should adhere to or supplements that might be beneficial?
5-What other monitoring is required and how frequently should my cholesterol levels be checked?
6-Are there any possible negative effects or drug interactions with the prescriptions I’m taking?
7-If so, when and how should my family members be evaluated for familial hypercholesterolemia?
8-Is my illness a potential candidate for any clinical trials or research studies?
9-What should I do if I suffer any alarming side effects or symptoms?
10-What resources are available to me for support and how can I manage my disease the best over the long term?