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.

How is FH inherited?

One in about 200-250 people have the FH genetic mutation.  Each child (heterozygous FH) 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. Homozygous FH (where a child has BOTH parents with Familial Hypercholesterolaemia) is RARE but is more difficult to treat because the level of cholesterol is extremely high.

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

Diagnosis of FH

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;

• Blood tests for a detailed analysis of the lipid components
• Heart Screening
• Cardiac Stress Tests

Treatment for FH

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 Dont’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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