Diagnosing FH in Adults
FH is a disorder of high LDL ("bad") cholesterol that is passed down through families, which means it is inherited. The condition begins at birth and can cause heart attacks at an early age.
Your family physician may be the first person to suspect you have FH, but a final diagnosis may happen at a lipid clinic. Meanwhile your physician's diagnosis may reveal fatty skin growths called xanthomas and cholesterol deposits in the eye (corneal arcus). Your physician will also ask questions about your personal and family medical history.
A person with possible FH may expect to be asked if there is:
A strong family history of high cholesterol or early heart attacks or early death from heart disease or stroke in a first degree relative (mother, father, son, daughter, brother, sister) including the age at which any of these relatives developed heart disease.
If any of the relatives have died, what caused their death, and whether or not they smoked are important parts of the diagnosis. It may be useful to check this information with other family members, or (if known) whether there were high levels of LDL in either or both parents.
People from families with a strong history of early heart attacks or cardiovascular death should expect to have blood tests taken in order to determine cholesterol (lipid) levels.
Measuring your blood cholesterol involves a simple blood test. It can be done in two ways:
- a full fasting blood sample is taken with a syringe and needle and sent to a laboratory for analysis
- a finger prick (capillary sample) is taken and analysed on a desktop analyser.
To make a formal diagnosis of FH, your physician usually needs a full fasting lipid profile. You will be asked not to eat anything, and to drink only clear fluids such as water, or tea and coffee without milk, for 12 hours before your blood is taken for the test.
Your physician will check your total cholesterol level and your LDL cholesterol level against criteria relevant in your country or area. Your physician may also ask for other blood tests to be done, such as a blood sugar level test to check for diabetes, and also liver and kidney function tests, and in many countries it is reasonable to expect that you will be offered a DNA test, which will check for the presence of the faulty gene that may be causing your condition. This will also help your physician or specialist to confirm the diagnosis of FH.
In Australia, there are over 45,000 cases of FH but less than 10% have been diagnosed
The genetic cause for FH was described by Drs Jo Goldstein and Michael Brown in the early 1970s.
Children with diagnosed and treated FH live longer
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