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Updated on April 14, 2021

Familial hypercholesterolemia

Familial hypercholesterolemia (FH) is due to an inherited genetic defect which affects how the body metabolises cholesterol.  The liver cells are not able to remove the LDL (also known as the bad cholesterol) from the body.  As a result, cholesterol levels rises in the body and accumulates in the bloodstream which can ultimately cause fatty plaque build up on the walls of the arteries (known as atherosclerosis).  If left untreated, people with FH have around 20 times increased risk of developing heart disease compared to normal people.  The good news is that FH is treatable with a combination of lifestyle or diet changes and medications.

Click to view Heart UK video of FH

How is FH inherited?

One in about 200-250 people have the FH genetic mutation.  Each child of a person with FH has a 50% chance of inheriting the disorder so it is important to screen parents, siblings and children of a person diagnosed with FH to find who else may have inherited the gene mutation.

Symptoms

In the early stages, there are usually NO symptoms until the excess cholesterol deposits show up as;

  • Xanthomas which are fat deposits in the tendons of the elbow, knees, knuckles or Achilles tendon on the heel
  • Xanthelasma which are fat deposits on the upper or lower eyelids
  • Arcus which are fat deposits around the cornea edges
Xanthelasma image credit Wikipedia
Arcus image credit NHSUK

Diagnosis

In a family with FH, all first-degree relatives as family members who have a family history of early heart disease or heart attack should be checked for it.  Children with a family history of FH should have their cholesterol checked at around the age of 10 and again at around 18.  Recommended tests include;

Treatment

FH unusually remains under-diagnosed and under-treated because they may not have any symptoms in the early stages.  It is important for people with FH to be identified early because the prognosis is good if the condition is treated appropriately.

Prevention Do’s and Don’t’s

DO check your cholesterol 2-3 times a year

DO eat a healthy diet

DO choose foods which are low in cholesterol

DO regular exercises

DO consider taking medication to reduce your risk of heart disease or stroke

DO NOT smoke

DO NOT stop your cholesterol medication without discussing with your doctor or pharmacist

See your doctor to have regular blood tests to monitor your cholesterol and glucose levels

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Disclaimer. TELEME blog posts contains general information about health conditions and treatments. It is not intended to be a substitute for professional medical advice, diagnosis or treatment. The information is not advice and should not be treated as such. 

If you think you may be suffering from any medical condition, you should seek immediate medical attention from your doctor or other professional healthcare providers. You should never delay seeking medical advice, disregard medical advice, or discontinue medical treatment because of information on this website.

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