Familial Hypercholesterolemia – Diagnosis and Treatment
Diagnosis
Measuring Cholesterol in the Blood
Doctors use blood tests to check for high cholesterol as a first step if familial hypercholesterolemia (FH) is suspected. A lipid panel measures different types of cholesterol, with a main focus on LDL cholesterol (sometimes called “bad” cholesterol).
In children, signs of FH may appear if LDL cholesterol is above 160 mg/dL (4.1 mmol/L). For adults, LDL cholesterol over 190 mg/dL (4.9 mmol/L) often points toward this condition.
In more severe situations, people can have LDL cholesterol levels over 500 mg/dL (13 mmol/L). Doctors may recommend cholesterol testing starting from age 9 to 11, with regular checks every five years.
If the family has a history of early heart disease or high cholesterol, doctors may start screenings sooner and perform them more often.
To spot possible signs of FH, the doctor will also look for physical clues such as xanthomas (cholesterol deposits on the skin or tendons) or a gray-white ring around the iris called corneal arcus.
Typical findings during the exam include:
- Thickened tendons, especially in the hands or heels
- Bumps or lumps on the elbows, knees, or around the eyes
Cholesterol test results help doctors decide if further testing for FH is needed, especially when combined with the person’s symptoms, family background, and clinical findings.
Some doctors use formal guides like the Dutch criteria to help determine if a diagnosis of FH is likely.
Checking for Inherited Gene Changes
Genetic testing identifies DNA changes in certain genes like LDLR or APOB, which are often linked with FH. This kind of test is not required for everyone, but it can confirm if someone has the condition.
Genetic testing becomes more important if blood cholesterol levels are very high, or if many family members have high cholesterol or early heart disease.
If doctors find FH in a person, they usually recommend testing close family members as well. This can involve either blood tests or genetic analysis.
Early diagnosis gives others in the family a better chance to start treatment while they are still healthy.
When a genetic test shows a change linked to FH, close relatives such as children, siblings, or parents have a higher chance of having the same issue.
Each child of an affected parent has a 50% chance of inheriting the gene.
Rarely, if both parents have FH, a child can inherit a severe form of the disorder. Genetic counseling helps families understand their risks and what results mean.
Treatment
Medicines to Lower Cholesterol
People with this condition often need medicines to bring down their high levels of “bad” LDL cholesterol.
Some types of medicines include:
| Medicine Type | How It Works |
|---|---|
| Statins | Stops cholesterol production |
| Ezetimibe | Reduces cholesterol absorption |
| PCSK9 Inhibitors | Helps liver remove more LDL |
- Statins: These drugs stop the liver from making as much cholesterol. Statins are usually the first choice.
- Ezetimibe: This medicine lowers cholesterol by blocking it from being absorbed from food. Doctors often prescribe it if statins are not enough.
- PCSK9 blockers: These are newer shots, like alirocumab and evolocumab. They help the liver clear more LDL cholesterol from the blood. PCSK9 inhibitors are often used when other options are not enough, but they can be costly.
Additional Ways to Manage Cholesterol
When medicines do not control cholesterol enough, some people need extra help.
In severe cases, doctors use a special treatment to filter cholesterol right out of the blood using a machine.
Rarely, doctors may perform a liver transplant for those with very high cholesterol that does not get better with other treatments.
Daily Care Tips
Adopting certain daily habits helps keep cholesterol levels in a healthier range, especially for people with a family history of high cholesterol. Managing weight is important, as even a small amount of weight loss can lower cholesterol levels.
Eating foods that are good for the heart makes a big difference. It is best to fill half the plate with fruits and vegetables and pick whole grains when possible.
Choosing foods with less saturated fat and avoiding trans fats protects the heart. For example, baked or grilled foods are better than fried ones.
Regular movement is also important. Most people should try for at least 30 minutes of moderate activity, like brisk walking or cycling, on five days each week.
If someone has not been active, they should talk to a doctor before starting a new exercise routine.
Healthy Living Checklist
| Habit | Recommendation |
|---|---|
| Physical Activity | At least 30 minutes, 5 days a week |
| Diet | Plenty of fruits, vegetables, whole grains, low in saturated/trans fats |
| Weight Management | Work towards a healthy weight |
| No Smoking | Do not smoke or use tobacco |
Letting close relatives know about high cholesterol in the family is helpful. If others in the family may be at risk, they should be tested too.
Drinking enough water, managing stress, and getting enough sleep also support overall health and help these changes work better.
