What it is
Familial hypercholesterolemia is an inherited condition that can cause LDL ("bad") cholesterol to run high, often starting early in life. It is usually linked to a variant, sometimes called a change, in a gene involved in clearing cholesterol from the blood.
Not everyone with very high cholesterol has FH. Diet, other health conditions, medicines, thyroid or kidney issues, and other inherited patterns can all play a role. That is why a clinician looks at the whole picture rather than a single number.
Genetic heart testing looks for variants linked to conditions like FH. It shows risk or carrier status and does not diagnose heart disease on its own. A negative result does not rule out risk, and a variant of uncertain significance is not a diagnosis.
How it’s traditionally been approached
Traditionally, high cholesterol has been explored through a personal and family history, a physical exam, and blood work such as a lipid panel. Clinicians often ask about relatives who had high cholesterol or heart problems at a young age.
Some clinicians use clinical criteria that combine cholesterol levels, family history and exam findings to judge how likely FH may be. Genetic testing has more recently been added as an option for some people.
Approaches to managing cholesterol vary and are decided by a licensed clinician after an evaluation. Medicines and other options each have their own regulatory status, and it is worth asking your provider about what applies to you.
How the right cardiologist may help
A cardiologist or lipid specialist with experience in FH may help you make sense of your numbers. A first visit generally involves reviewing your health history, your family's history, past lab results and any medicines or supplements you take.
They may talk with you about whether genetic heart testing could be useful in your situation, what it can and cannot tell you, and whether a genetic counselor should be involved before and after testing. Genetic counselor licensing varies by state.
Helpful questions to bring: Could something other than FH explain my numbers? Would genetic testing change anything for me? If a disease-causing variant is found, should my relatives be tested (cascade testing)? How does GINA apply, and what about life, disability or long-term-care insurance? Will my insurer cover testing or follow-up? Coverage varies by insurer, state and diagnosis, so confirm with your insurer and provider.
The whole-person view
Body, mind and stress affect each other. Learning that high cholesterol may run in your family can bring worry, guilt or relief, and stress can in turn affect sleep, eating habits and how you feel day to day. Looking at the whole person is a normal part of caring for your heart.
If the emotional side feels heavy, body-based support such as Somatic Experiences may help some people feel more settled, and talk therapy through Therapists.plus is another option to explore. Neither replaces guidance from your cardiologist, and no approach is better than another for everyone.
Somatic Experiences: nervous system regulation →Somatic Experiences: embodiment and movement →Therapists.plus: anxiety panic and ocd →Therapists.plus: mind body connection →
Keep in mind
- This page is educational only and is not medical advice; licensed professionals should guide your care.
- A genetic test shows risk or carrier status, does not diagnose heart disease alone, and cannot promise to prevent a heart attack or sudden cardiac death.
- GINA protects against genetic discrimination in US health insurance and employment, but does not cover life, disability or long-term-care insurance, so ask about those before testing.
- For emergencies such as chest pain or trouble breathing, call 911; in a crisis, call or text 988.
Cardiologists who often help
Get matched privatelyFrequently asked questions
Can familial hypercholesterolemia explain my very high cholesterol?
It may, but it is only one possible explanation. Other factors such as lifestyle, other health conditions, medicines and other inherited patterns can also raise cholesterol. A qualified clinician looks at your history, family history, exam and lab results to understand what may be going on.
How do I know if I have familial hypercholesterolemia?
Only a licensed clinician can evaluate this after reviewing your history, family history, exam and blood work. Some clinicians also consider genetic heart testing. Test results are interpreted together with everything else, not on their own.
Does genetic heart testing diagnose familial hypercholesterolemia?
No, a genetic test alone does not diagnose it. It shows risk or carrier status and must be interpreted alongside your history, exam and bloodwork by a cardiologist or genetic counselor. A negative result does not rule out risk, and a variant of uncertain significance is not a diagnosis.
Should my family members be tested if I have FH?
If a disease-causing variant is found, clinicians often discuss cascade (family) testing for relatives. A genetic counselor or cardiologist can explain who might be appropriate to test and how to share the information.
Will genetic testing affect my insurance?
GINA protects against genetic discrimination in US health insurance and employment. It does not cover life, disability or long-term-care insurance, so ask about those before testing. Also confirm coverage for the test itself with your insurer and provider.
What kind of doctor helps with familial hypercholesterolemia?
Cardiologists with a focus on lipids or FH, and those who care for coronary artery disease, may help. A genetic counselor can also support testing decisions. Genetic counselor licensing varies by state, so ask about credentials.
Educational resource. CardioGenes shares general information and connects people with independent cardiologists. It is not medical advice, diagnosis or treatment. Talk with a licensed professional about your health.