Familial hypercholesterolemia is an inherited condition that causes very high LDL cholesterol from a young age. Because the exposure begins early in life, untreated patients can develop coronary artery disease at younger ages.
Why Does Familial Hypercholesterolemia Occur?
It is usually related to genetic changes that affect how the body clears LDL cholesterol from the blood. The condition can pass from parent to child, so family screening is important.
How Common Is It?
Familial hypercholesterolemia is more common than many people think, but it is often underdiagnosed. Many patients are identified only after a heart attack or after a relative is diagnosed.
Which Findings Suggest It?
- LDL cholesterol around or above 190 mg/dL in adults
- Early heart attack in the patient or family
- Very high cholesterol from childhood or young adulthood
- Tendon xanthomas in some patients
- Multiple family members using cholesterol medication
Is Genetic Testing Needed?
Diagnosis can be clinical, genetic or both. Genetic testing may confirm the diagnosis, support family screening and clarify risk, but treatment should not be delayed when clinical risk is high.
Why Should Family Members Be Evaluated?
If one person has familial hypercholesterolemia, first-degree relatives may also carry the condition. Cascade screening helps identify affected relatives before heart disease develops.
Treatment
Treatment focuses on aggressive LDL cholesterol reduction, lifestyle measures and long-term follow-up. Statins, ezetimibe, PCSK9 inhibitors or other therapies may be used according to risk and response.
Frequently Asked Questions
Does it occur only in overweight people?
No. LDL can be very high even in lean individuals.
Is LDL above 190 always genetic?
Not always, but it should raise suspicion and prompt evaluation.
Should children be tested?
If familial hypercholesterolemia is suspected or confirmed, pediatric evaluation may be appropriate.
Related: Family History of Early Heart Attack.
