Familial Hypercholesterolemia

High cholesterol can be passed down through families, and this can significantly increase the risk of heart problems. This condition, called familial hypercholesterolemia, happens because the body doesn't process cholesterol normally. This means people with this condition have a much higher chance of getting heart disease and having a heart attack, often at a younger age than expected.

The problem comes from genes that are passed on from parents to children. This means you're born with it. Sometimes, symptoms might not show up until later in life, but in some cases, they appear in childhood.

If someone inherits the faulty genes from both parents, the condition is more severe. This can mean symptoms develop during childhood and, if untreated, can lead to serious health problems, even death, before the age of 20.

Fortunately, there are ways to manage familial hypercholesterolemia. Treatments typically involve a combination of medicine and healthy lifestyle choices. This might include specific medications to help lower cholesterol levels and adopting a heart-healthy diet, regular exercise, and maintaining a healthy weight.

People with familial hypercholesterolemia have a lot of a type of cholesterol called LDL (low-density lipoprotein) in their blood. LDL cholesterol is often called "bad" cholesterol because it can stick to the inside of the arteries, making them stiff and narrow. This buildup can restrict blood flow.

This extra cholesterol can sometimes show up in certain parts of the body:

• Skin: High cholesterol can cause deposits to form, most often on the hands, elbows, and knees. These deposits can also appear around the eyes. They look like small, hard bumps under the skin.

• Tendons: The excess cholesterol can cause tendons, especially the Achilles tendon (the large tendon in your heel) and tendons in your hands, to become thicker and harder.

• Eyes: High cholesterol levels can sometimes lead to a white or gray ring around the colored part of your eye (the iris). This is called corneal arcus. While it's more common in older people, it can also happen in younger people with familial hypercholesterolemia. This ring is usually a sign of high cholesterol and doesn't cause any vision problems.

Familial hypercholesterolemia (FH) is a condition you're born with. It's caused by a problem with a gene that you inherit from one or both of your parents. This gene change makes it hard for your body to get rid of a type of cholesterol called LDL cholesterol. This LDL cholesterol can build up in your arteries, increasing your risk of heart disease.

High cholesterol can run in families. If either or both of your parents have a certain gene change, you have a higher chance of developing a condition called familial hypercholesterolemia. Most people with this condition inherit one copy of the problematic gene. But in less common situations, a child can inherit the gene from both parents. This can make the condition much more serious.

Some groups of people are more likely to have this gene change than others. For example, it's more frequently seen in:

• Ashkenazi Jewish people
• Some Lebanese communities
• French-Canadian populations

People with a genetic condition called familial hypercholesterolemia (FH) are at a greater risk of developing heart disease and dying younger than average. This means heart attacks can happen much earlier in life than usual. Men with FH may have a heart attack before they turn 50, and women before 60. In the most serious forms of FH, which are less common, the condition can be so severe that it leads to death before the age of 20 if not diagnosed and treated. Early diagnosis and treatment are crucial for people with FH to reduce this risk.

Understanding Familial Hypercholesterolemia

Familial hypercholesterolemia (FH) is a condition where a person has very high levels of LDL ("bad") cholesterol. This high cholesterol can build up in the arteries, making them hard and narrow, increasing the risk of heart attacks. Knowing your family history is crucial for diagnosing FH. Doctors want to know if anyone in your family—parents, siblings, aunts, uncles, grandparents—had high cholesterol or heart problems, especially when they were young.

During a physical exam, doctors might look for signs of high cholesterol. These could include:

• Deposits in the skin: Small, yellowish bumps or patches on the skin around the hands, knees, elbows, and eyes.
• Thickened tendons: Tendons, especially in the heels and hands, might be thicker than usual.
• Eye changes: A gray or white ring might be present around the colored part of the eye (iris).

The American Heart Association recommends that most people have their cholesterol checked between the ages of 9 and 11, and then every 5 years after that. If you have a family history of childhood heart problems, you might need more frequent screenings. Different countries use different units to measure cholesterol. The US uses milligrams of cholesterol per deciliter of blood (mg/dL), while Canada and some European countries use millimoles per liter (mmol/L).

High cholesterol levels vary depending on age. Adults with FH usually have LDL cholesterol levels above 190 mg/dL (4.9 mmol/L). Children with FH often have levels above 160 mg/dL (4.1 mmol/L). In serious cases, levels can be even higher, exceeding 500 mg/dL (13 mmol/L).

A genetic test can confirm FH, but it isn't always necessary. A test can help determine if other family members are also at risk. If one parent has FH, there's a 50% chance that each child will inherit it. If a child inherits the altered gene from both parents, they may have a more severe form of the disease.

If someone is diagnosed with FH, doctors usually recommend checking other close relatives (parents, siblings, children) for the condition. Early diagnosis and treatment can help prevent heart problems later in life.

High cholesterol, a family trait, needs special treatment. This condition, called familial hypercholesterolemia, means your body produces too much LDL ("bad") cholesterol. High LDL cholesterol significantly raises your risk of heart attacks and death.

Managing this high cholesterol usually requires more than one medicine. Here are some common options:

Medications:

• Statins: These are widely used drugs that work by telling your liver to make less cholesterol. Different brands of statins are available, and your doctor will choose the best one for you based on your specific situation. Examples include atorvastatin (Lipitor), fluvastatin (Lescol XL), lovastatin (Altoprev), pitavastatin (Livalo), pravastatin, rosuvastatin (Crestor), and simvastatin (Zocor). Statins are often a first-line treatment.

• Ezetimibe (Zetia): This medication prevents your body from absorbing as much cholesterol from the food you eat. If statins alone don't lower your cholesterol enough, ezetimibe can be added.

• PCSK9 Inhibitors: These are newer, more powerful medications. They help your liver remove more LDL cholesterol from your blood. They're given as injections under the skin every few weeks. These drugs are often very expensive, and your doctor will consider your situation to determine if they are the best choice for you. Examples include alirocumab (Praluent) and evolocumab (Repatha).

More Advanced Treatment:

In some severe cases of familial hypercholesterolemia, a procedure to filter excess cholesterol from the blood may be necessary. In extreme situations, a liver transplant might be considered. Your doctor will discuss all options with you to determine the best course of action.

Important Note: This information is for general knowledge and understanding. It's crucial to consult with your doctor or a qualified healthcare professional for personalized advice and treatment options for familial hypercholesterolemia. They can assess your specific situation and recommend the most appropriate course of action.