FH Gene Mutation: What You Need to Know
Genetic disorders are inherited conditions that can impact the way an individual’s body functions. These disorders can be caused by mutations or changes in genes that are responsible for producing specific proteins in the body. In some cases, mutations can cause genetic disorders such as Familial Hypercholesterolemia (FH).
Familial Hypercholesterolemia is a genetic disorder that causes high levels of low-density lipoprotein (LDL) or bad cholesterol in the blood. This condition is caused by the mutation or changes in the FH gene. Familial Hypercholesterolemia is inherited in an autosomal dominant pattern, which means that if one parent is affected by this condition, there is a 50% chance that their child will inherit the disease.
What is FH Gene Mutation?
FH gene mutation is a genetic condition that causes a person to have high LDL cholesterol levels, which increases the risk of heart disease. This gene mutation is caused by a change or variation in the DNA code of the FH gene, which results in the production of a faulty version of the LDL receptor. This faulty receptor cannot remove cholesterol from the blood effectively, leading to high levels of LDL or bad cholesterol in the blood.
Cholesterol is a fat-like substance that is produced in the liver and is necessary for healthy body function. It helps to build cell walls, produce hormones, and digest fats. When LDL cholesterol levels become too high, it can build up in the walls of blood vessels and form plaques. The buildup of plaque can lead to atherosclerosis, a condition in which the arteries become narrowed and hardened, which increases the risk of heart attack and stroke.
Types of FH Gene Mutation
FH gene mutations can be classified into two types: heterozygous FH and homozygous FH.
Heterozygous FH is the most common type of FH gene mutation, with an estimated frequency of 1 in 200 to 500 individuals. This type of mutation is inherited from one parent and leads to moderately high cholesterol levels.
Homozygous FH is a rare type of FH gene mutation that is inherited from both parents. This mutation leads to very high cholesterol levels, and individuals with this condition are at a high risk of developing heart disease at an early age.
Symptoms of FH Gene Mutation
Symptoms of FH gene mutation can vary depending on the severity of the condition. In most cases, individuals with FH gene mutation do not show any noticeable symptoms until the high cholesterol levels cause damage to the blood vessels. However, some common symptoms of FH gene mutation include:
1. Xanthelasmas: Yellowish fatty deposits around the eyelids.
2. Xanthomas: Yellowish fatty deposits on the skin.
3. Arcus senilis: A combination of white and gray deposits around the edge of the iris.
4. Chest pain: This may occur when the coronary arteries are narrowed due to the buildup of plaque.
5. Shortness of breath: This may occur when the heart is unable to pump enough blood to meet the body’s needs.
6. Peripheral vascular disease: This may occur when blood vessels in the legs or arms become narrowed, leading to poor circulation.
Diagnosis of FH Gene Mutation
If an individual has a family history of high cholesterol levels or heart disease, they should be screened for FH gene mutation. The diagnosis of FH gene mutation involves a blood test that measures the levels of LDL cholesterol in the blood and identifies the presence of genetic mutations. A test called DNA sequencing is used to detect any mutations in the FH gene. In some cases, imaging tests such as an ultrasound or CT scan may be performed to evaluate the severity of atherosclerosis.
Treatment Options for FH Gene Mutation
FH gene mutation is a lifelong condition that requires ongoing management. Treatment options for FH gene mutation include lifestyle changes, medications, and medical procedures.
1. Lifestyle changes: Making lifestyle changes such as eating a healthy diet, exercising regularly, and avoiding smoking can help to reduce cholesterol levels and prevent further damage to the blood vessels.
2. Medications: Medications such as statins, bile acid sequestrants, and PCSK9 inhibitors can help to lower cholesterol levels in individuals with FH gene mutation.
3. Medical procedures: In some cases, medical procedures such as apheresis or LDL apheresis may be required to remove excess LDL cholesterol from the blood.
FH gene mutation is a genetic disorder that causes high levels of LDL cholesterol in the blood that increases the risk of heart disease. It is a lifelong condition that requires ongoing management, including lifestyle changes, medications, and medical procedures. FH gene mutation can be diagnosed through blood tests and DNA sequencing. It is essential to screen for FH gene mutation if there is a family history of high cholesterol levels or heart disease. With appropriate management, individuals with FH gene mutation can lead a healthy and productive life.