Familial hypercholesterolemia screening: who is checked, and what the results mean
Familial hypercholesterolemia (FH) is an inherited condition that causes very high levels of cholesterol in the blood. (MedlinePlus Genetics) It begins at birth and can cause heart attacks at an early age. (MedlinePlus, 2026) An expert panel of the National Lipid Association says FH is underdiagnosed, particularly among children. (NLA, 2011)
What FH is
- The cause: changes in the LDLR, APOB, LDLRAP1 or PCSK9 gene. LDLR changes are the most common. These changes stop the body from removing LDL cholesterol from the blood properly. (MedlinePlus Genetics)
- How it is inherited: for the LDLR, APOB and PCSK9 genes, one altered copy is enough, usually inherited from an affected parent. Rarely, a person inherits an altered copy from both parents; this more severe form usually appears in childhood. (MedlinePlus Genetics)
- How common it is: an estimated 1 in 200 to 1 in 250 people in most countries. (MedlinePlus Genetics) In US children and teens, 0.2% to 0.4%, or 1 of every 250 to 500. (USPSTF, 2023)
- Signs: there may be no symptoms in the early years. Signs that may appear include fatty skin deposits called xanthomas over the hands, elbows, knees and ankles, cholesterol deposits in the eyelids (xanthelasmas), and chest pain or other signs of coronary artery disease at a young age. (MedlinePlus, 2026) NICE says the absence of signs such as tendon xanthomas does not exclude FH in adults or children. (NICE CG71)
FH accounts for only a small percentage of all cases of high cholesterol. (MedlinePlus Genetics) The USPSTF says a much more common pattern in children, multifactorial dyslipidemia, is mainly linked to environmental factors such as excessive intake of saturated fat, a sedentary lifestyle and obesity, and its levels are generally lower than in FH. (USPSTF, 2023) If you have a family history of high blood cholesterol, it may be harder for your body to remove LDL cholesterol from your blood. (NHLBI, 2024)
Who is checked
Adults. MedlinePlus says people from families with a strong history of early heart attacks should have blood tests to check their lipid levels. The provider asks about personal and family history, which may show a strong family history of FH or early heart attacks, or a high LDL level in one or both parents. (MedlinePlus, 2026) NICE (England) says to:
- suspect FH in adults with a total cholesterol above 7.5 mmol/L, or a personal or family history of coronary heart disease before 60 in the person or a first-degree relative;
- search primary care records for people younger than 30 with total cholesterol above 7.5 mmol/L, and people 30 or older with total cholesterol above 9.0 mmol/L;
- offer a total cholesterol test to people with a personal or family history of coronary heart disease before 60 whose level is unknown;
- rule out other causes of high cholesterol first, and measure LDL cholesterol twice to confirm a diagnosis. (NICE CG71)
In US units, 7.5 mmol/L is about 290 mg/dL and 9.0 mmol/L is about 347 mg/dL, using the conversion factor of 38.6 given by the NHLBI expert panel. (NHLBI Expert Panel, 2011)
Children and teens (US expert panel). The NHLBI expert panel recommends: (NHLBI Expert Panel, 2011)
- Birth to 2: no lipid screening.
- 2 to 8: no routine screening, but a fasting lipid profile twice, with the results averaged, if a parent, grandparent, aunt, uncle or sibling had a heart attack, angina, stroke or a heart procedure (bypass, stent or angioplasty) before 55 in males or 65 in females, or a parent has total cholesterol of 240 mg/dL or more or known dyslipidemia, or the child has other risk factors such as diabetes or high blood pressure.
- 9 to 11: universal screening.
- 12 to 16: no routine screening, but a lipid profile twice, with the results averaged, if the family learns that a parent or grandparent had one of those heart events or sudden death before 55 in males or 65 in females, or a parent has total cholesterol of 240 mg/dL or more or known dyslipidemia, or the teen has other risk factors such as diabetes or high blood pressure.
- 17 to 21: universal screening once in this period.
The panel says children with an average LDL cholesterol of 250 mg/dL or more should be referred directly to a lipid specialist. (NHLBI Expert Panel, 2011) For the usual testing schedule at each age, see cholesterol test by age.
Children of a parent with FH (NICE). In children aged 0 to 10 at risk of FH because one parent is affected, NICE says to offer a DNA test at the earliest opportunity, with another chance by age 10 if it has not been done. If both parents are affected, or there are signs such as xanthomas, LDL cholesterol should be measured before age 5 or as soon as possible after. (NICE CG71)
Cholesterol levels and criteria, as the sources state them
The USPSTF says the diagnosis of FH is defined in different ways, but generally includes very high lipid levels, a single-gene change, or both. (USPSTF, 2023) A standard lipid panel is the first test; for what each number on it means, see cholesterol test results.
| Level or criterion | What the source says |
|---|---|
| LDL cholesterol, children and teens | Acceptable: less than 110 mg/dL. Borderline-high: 110 to 129 mg/dL. High: 130 mg/dL or more. (NHLBI Expert Panel, 2011) |
| LDL cholesterol, young adults | Acceptable: less than 120 mg/dL. Borderline-high: 120 to 159 mg/dL. High: 160 mg/dL or more. These cut points come from people aged 20 to 24. (NHLBI Expert Panel, 2011) |
| LDL cholesterol of 190 mg/dL or more | The level a large US study used to define the FH phenotype (the pattern seen in FH) in adults; the USPSTF cites that study. (USPSTF, 2023) |
| Total cholesterol above 7.5 mmol/L (about 290 mg/dL) | NICE: suspect FH as a possible diagnosis in an adult with this level, or with a personal or family history of coronary heart disease before 60. (NICE CG71) (NHLBI Expert Panel, 2011) |
| Simon Broome criteria | NICE: one of two sets of criteria used to make a clinical diagnosis of FH. Meeting them for possible or definite FH is a reason to refer the person to an FH specialist service for DNA testing. (NICE CG71) |
| Dutch Lipid Clinic Network (DLCN) score | NICE: a score built from personal and family medical history, clinical signs, LDL cholesterol and DNA testing; the higher the score, the higher the likelihood of FH. A score greater than 5 is a reason to refer for DNA testing. (NICE CG71) |
| LDL above 13 mmol/L (adults) or above 11 mmol/L (children and young people) | NICE: consider a clinical diagnosis of homozygous FH, the more severe form in which both gene copies are altered, and offer referral to a specialist centre. (NICE CG71) (MedlinePlus Genetics) |
NICE says the Simon Broome or DLCN criteria should be used by a healthcare professional trained in them. It also says heart risk calculators such as QRISK2 and Framingham-based tools should not be used for people with FH, because they are already at high risk of early coronary heart disease. (NICE CG71)
What a genetic test result means
Several gene changes can each cause FH, so a genetic test looks for each of them. (USPSTF, 2023)
| Result | What the sources say |
|---|---|
| A gene change linked to FH is found | NICE: the person has an unequivocal diagnosis of FH, even if their LDL cholesterol does not meet the diagnostic criteria. The USPSTF notes that people who carry an FH gene variant are at higher risk of coronary artery disease at any LDL level. (NICE CG71) (USPSTF, 2023) |
| No gene change is found, but FH is suspected | MedlinePlus Genetics: some people with FH do not have a change in one of the known genes; in these cases the cause is unknown. (MedlinePlus Genetics) |
| A relative tests negative for the gene change found in the family | NICE: not all family members may have inherited it. When DNA testing has excluded FH in a family member, their heart risk is managed as in the general population. (NICE CG71) |
In one study the USPSTF cites, the odds ratio for coronary artery disease was 5.2 for people with an LDL of 190 to 220 mg/dL or more and no FH gene change, compared with people with an LDL below 130 mg/dL and no gene change. With an FH gene change at the same LDL level, the odds ratio was 17.0. (USPSTF, 2023)
Testing relatives (cascade testing)
NICE describes cascade testing as a way of finding people at risk of a genetic condition by tracing through the family. For FH, the test is a DNA test for the gene change already found in the first person diagnosed. (NICE CG71) NICE says to use it to find affected first-degree and second-degree relatives and, when possible, third-degree relatives of people with a genetic diagnosis of FH, and to offer everyone with FH a referral to a specialist to confirm the diagnosis and start cascade testing. (NICE CG71) MedlinePlus says people with a family history of FH, particularly if both parents carry the gene change, may want to seek genetic counseling. (MedlinePlus, 2026)
NICE says healthcare professionals with expertise in FH should record, when possible, a family tree of at least three generations, with each relative's age when heart disease started, their cholesterol levels and smoking history. (NICE CG71) For how to gather this, see how to collect your family health history and screening when you have a family history.
MedlinePlus, when to contact a medical professional: (MedlinePlus, 2026)
Seek medical care right away if you have chest pain or other warning signs of a heart attack.
Contact your provider if you have a personal or family history of high cholesterol level.
Where they differ:
- USPSTF (US, 2023): the evidence is insufficient to assess the benefits and harms of screening for lipid disorders, including FH, in children and teens 20 and younger without symptoms (I statement). Screening based on a family history of early heart disease was outside its review. (USPSTF, 2023)
- NHLBI expert panel, AAP Bright Futures and the multisociety cholesterol guideline (US): as the USPSTF summarizes them, universal screening at 9 to 11 and again at 17 to 21, and selective screening from age 2 for children with a family history of heart disease or high cholesterol or other risk factors. (USPSTF, 2023) (NHLBI Expert Panel, 2011)
- NICE (England): a DNA test for children of a parent with FH from birth to age 10, cascade DNA testing of relatives, and Simon Broome or DLCN criteria for adults. (NICE CG71)
- What counts as early heart disease: NICE uses an event before 60 in the person or a first-degree relative; the NHLBI panel uses before 55 in males and before 65 in females in a parent, grandparent, aunt, uncle or sibling. (NICE CG71) (NHLBI Expert Panel, 2011)
- US adult guideline: the 2026 ACC/AHA guideline on the management of dyslipidemia retires and replaces the 2018 cholesterol guideline. (ACC/AHA, 2026)
Lipoprotein(a) is another inherited cholesterol marker, separate from FH; see the lipoprotein(a) test.
Your doctor decides what your result means for you.
This page does not give treatment advice. If you have an abnormal result, see after an abnormal screening result for questions to ask.
Questions people ask
What is familial hypercholesterolemia?
An inherited condition in which the body cannot get rid of extra LDL cholesterol, so it builds up in the blood. It begins at birth and raises the risk of heart disease, including heart attacks at an early age. (MedlinePlus Genetics) (MedlinePlus, 2026)
How common is familial hypercholesterolemia?
MedlinePlus Genetics estimates it affects 1 in 200 to 1 in 250 people in most countries. The USPSTF puts it at 0.2% to 0.4% of US children and teens, or 1 of every 250 to 500. (MedlinePlus Genetics) (USPSTF, 2023)
Can you have FH without any symptoms?
Yes. MedlinePlus says there may be no symptoms in the early years, and the USPSTF says FH is generally without symptoms in childhood and the teen years. NICE notes that the absence of signs such as tendon xanthomas does not exclude FH. (MedlinePlus, 2026) (USPSTF, 2023) (NICE CG71)
At what age are children checked for high cholesterol?
The NHLBI expert panel recommends checking all children once at 9 to 11 and again once at 17 to 21, and checking from age 2 when there is a family history of early heart disease or high cholesterol. The USPSTF found the evidence insufficient to recommend for or against screening children and teens 20 and younger (I statement). (NHLBI Expert Panel, 2011) (USPSTF, 2023)
What does a positive genetic test for FH mean?
NICE says a person with an identified gene change that is diagnostic of FH has an unequivocal diagnosis, even if their LDL cholesterol does not meet the criteria. Your doctor decides what your result means for you. (NICE CG71)
What is cascade testing?
NICE describes it as a way of finding people at risk of a genetic condition by tracing through the family. For FH, relatives are offered a DNA test for the gene change already found in the first person diagnosed. (NICE CG71)