How Is Familial Hypercholesterolemia Diagnosed?

Familial Hypercholesterolemia, or FH, refers to individuals with significantly high LDL cholesterol. There’re two types of Familial Hypercholesterolemia, heterozygous familial hypercholesterolemia (HeFH), and homozygous familial hypercholesterolemia (HoFH). The difference is that the individual inherits from one parent or both parents.

The diagnosis of familial hypercholesterolemia include physical exam, blood test and some other tests when necessary.

Physical Exam

During physical exam, your doctor tries to identify fat deposits and lesions. They are looking for bumps in elbows, knees, buttocks, or swelling in the back of ankles, or yellow patch on eyelids, or white circles or half-circles around cornea.

Your doctor will ask you a few questions, including chest pains, rapid heartbeat, being out of breath, these questions are to identify if you have heart problem. Your doctor will ask about your family history too.

Blood Test

The blood test shows your total cholesterol, LDL cholesterol and triglycerides levels. FH is characterized for Very High LDL cholesterol, the whole problem about this disease is that the gene inherited doesn’t work well so the body can’t remove LDL cholesterol. Notice that children’s borderline varies from the adults’ borderline.

Total Cholesterol
(mg/dl) Ideal Borderline High Optimal
Adult <200 201-239 >240
Child <170 170-199 >200
LDL Cholesterol
(mg/dl) Optimal Acceptable * Borderline High High Very High
Adult <100 100-129 130-159 160-189 >190
Child <110 110-129 >130
*LDL 100-129 is acceptable for normal people but may be a concern for those with heart disease or heart disease risk factors.
(mg/dl) Risk Low Mildly High High Very High
Adult <150 150-199 200-499 >=500

Other tests

As necessary, your doctor will ask you to do some other tests, including the gene test.


Must Take Treatment

Familial Hypercholesterolemia patients must take medical treatment. Because of the high LDL cholesterol, the risk of cardiovascular disease or stroke is way higher than normal people. The treatment including the recently FDA approved injection medications, Statins, healthy diet, exercises. 


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* The Content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition.