What is Familial Hypercholesterolemia?
FH is the most common inherited metabolic disorder, occurs in 1 out of 250 people and can lead to aggressive and premature cardiovascular disease.
People with FH are born with very high LDL cholesterol levels. More specifically the levels of "bad" (LDL) cholesterol are 2 or 3 times higher in HeFH (omozygus) patients and 6 or 8 times in eterozygus (HoFH), in comparison with non FH patients.
Although diet and lifestyle are important, they are not the cause of high LDL. In FH patients, genetic mutations make the liver incapable of removing excess LDL. As a result the levels of LDL are very high. Over time excess "bad" (LDL) cholesterol stettles on heart and brain blodd vessels.
"Untreated FH patients have 20 times higher risk of developing premature coronary heart disease. By the age of 60, the risk of a cardiac event or early death is greater than 50% in men and 30% in women with FH.
There are two types of Familial Hypercholesterolemia. If you have inherited this genetic mutation from one parent, then you will have Heterozygous FH (HeFH). HeFH occurs in 1 out of 250 people. If you inherit FH from both parents, it is much more severe in its consequences. This form of FH is called Homozygous FH (HoFH). It is very rare, occurring in about 1 in 160,000 to one million people worldwide. HoFH leads to aggressive atherosclerosis. This process begins even before birth and evolves with a rapid pace. If left untreated, a heart attack or sudden death may occur even in adolescence.
Am I at risk of having Familial Hypercholesterolemia?
If you answer yes to any of the following questions, you need to discuss it with your physician:
Do you have high cholesterol?
Does high cholesterol (LDL > 190 mg/dL) run in your family?
Has anyone in your family had a heart attack, needed a stent or bypass surgery before 55-65 years of age?
Do you have a family history of early heart disease or death from cardiac events?
Do you have yellowish deposits around your eyes?
FH patients look and feal healthy
FH is a serious disorder. If left untreated, FH leads to premature heart disease. Unfortunately for most people with FH, until they experience a heart attack, there are few physical symptoms. Some people will develop cholesterol deposits in specific locations including: the Achilles tendons (the back of the ankle) and the tendons of the hands. These are called tendon xanthomas and can sometimes be hard to recognize.
Some people expose orange or yellow fatty deposits around their eyes called xanthelasmas. Cholesterol may also deposit in the form of a white ring covering cornea of the eye. This usually has the shape of a half moon but can also cover the eye.