Overview
Familial hypercholesterolemia is a genetic condition that affects the way the body processes cholesterol. This results in very high levels of low-density lipoprotein (LDL) cholesterol, known as "bad" cholesterol, in the blood. The excess cholesterol can build up in the arteries, making them hard and narrow, and increase the risk of heart disease and early heart attack. The condition is present from birth, but symptoms may not appear until adulthood. It can be inherited from one or both parents, with the risk being higher if one or both parents have the gene alteration that causes it. People who inherit the condition from both parents usually develop symptoms in childhood. If left untreated, the rarer and more severe form of the condition can lead to death before age 20.
Understanding the disease
Symptoms
The symptoms of familial hypercholesterolemia include very high levels of low-density lipoprotein (LDL) cholesterol in the blood, which can lead to the build-up of cholesterol in the arteries, making them hard and narrow. Some people with the condition may also notice deposits of cholesterol in the skin, tendons, or around the iris of the eyes.
Risk Factors
Risk factors for developing familial hypercholesterolemia include having a parent with the gene alteration that causes the condition. If both parents pass the affected gene to their child, the risk of developing a more severe form of the condition increases. The condition may also be more common in certain populations, such as Ashkenazi Jews, some Lebanese groups, and French Canadians.
Development
Familial hypercholesterolemia can develop in two types: heterozygous and homozygous. In heterozygous familial hypercholesterolemia, a person inherits one affected gene from one parent and one normal gene from the other parent. This type is more common and usually results in mild to moderate elevations of LDL cholesterol levels. Symptoms may not appear until adulthood, and treatment usually involves medications and healthy lifestyle behaviors. In homozygous familial hypercholesterolemia, a person inherits two affected genes, one from each parent. This rare and more severe form of the condition leads to very high LDL cholesterol levels from birth. If left untreated, it can result in early heart disease and death, often before the age of 20. Early diagnosis and aggressive treatment are crucial for managing this type of familial hypercholesterolemia.
Assessment and Diagnosis
Triage
If familial hypercholesterolemia is suspected, you should see a doctor for a cholesterol screening and evaluation. According to the National Heart, Lung, and Blood Institute (NHLBI), the first cholesterol screening should occur between the ages of 9 and 11, and then be repeated every five years after that. For people with a family history of high cholesterol, heart disease, or other risk factors, more frequent tests may be recommended. If you have symptoms of high cholesterol, such as very high levels of low-density lipoprotein (LDL) cholesterol, you should consult a doctor for proper diagnosis and treatment.
Diagnosis
To diagnose familial hypercholesterolemia, a detailed family history is important. Doctors will inquire about family members who have had high cholesterol or heart disease, particularly during childhood. During a physical exam, doctors may check for cholesterol deposits, thickened tendons, and a white ring around the iris of the eye. Cholesterol levels are measured in milligrams (mg) of cholesterol per deciliter (dL) of blood or millimoles per liter (mmol/L). Adults with familial hypercholesterolemia typically have LDL cholesterol levels over 190 mg/dL (4.9 mmol/L), while children often have levels over 160 mg/dL (4.1 mmol/L). A genetic test can confirm the disorder, but it may not always be necessary. If one parent has the condition, each child has a 50% chance of inheriting it. If both parents pass on the altered gene, a rarer and more severe form may result. Treatment usually involves reducing LDL cholesterol levels with medications, lifestyle changes, and regular check-ups.
Management and Treatment
Complications
Complications of familial hypercholesterolemia include a higher risk of heart disease and death at a younger age. Heart attacks may occur before age 50 in men and age 60 in women. In rare cases, if the condition is undiagnosed or untreated, it can cause death before age 20.
Treatment
The treatments for both types of familial hypercholesterolemia include a variety of medications and healthy-lifestyle behaviors.
Preparing for medical consultation
To prepare for an appointment related to familial hypercholesterolemia, you should:
- Be aware of any pre-appointment restrictions: When you make the appointment, ask if there's anything you need to do in advance, such as restrict your diet or fasting before certain tests.
- Write down any symptoms you're experiencing, including those that may seem unrelated to high cholesterol. Note when they started and what you were doing when they started.
- Note important personal information, including a family history of high cholesterol, heart disease, stroke, high blood pressure, or diabetes, and any major stresses or recent life changes.
- Make a list of all medications, vitamins, or supplements you're taking, including dosages.
- Take a family member or friend along, if possible, to help remember information and provide support.
- Write down questions to ask your healthcare provider. Some questions to consider asking include the recommended treatment plan, potential side effects, and lifestyle changes that can help manage the condition. Remember to share this information with your healthcare provider during your appointment to ensure a comprehensive understanding of your health and medical history.