Familial Hypercholesterolemia

Familial Hypercholesterolemia is a hereditary genetic disease, that causes elevated blood cholesterol levels, up to relatively extremely high values compared with the general population.
The patients suffer from a genetic mutation in the LDL-cholesterol receptor that is attached to our body cells. The mutation inhibits the intake of cholesterol into the cells, thus elevating its level in the blood. There are several types of the disease, according to the amount of defected receptors in the cells (complete or partial defects).

Familial hypercholesterolemia causes complete or partial absence of the protein for the
LDL-receptor, so that the "bad" cholesterol doesn't absorb into the cells, and accumulates in the blood vessel walls. This process of accumulation in the blood vessel walls activates a process of local inflammation called atherosclerosis.
Atherosclerosis is the leading pathological process responsible for cardiovascular diseases, including heart attacks, strokes, renal failure and vascular damage to body organs.
Due to the high levels of cholesterol, patients with familial hypercholesterolemia can develop these complications at a relatively very young age (usually before the age of 30-40).

This genetic mutation has the prevalence of 1:500 births (1 out of 500 children is born with the partial defect). Luckily a complete defect is rare, due to the fact that both parents must be carriers of the LDL-receptor mutation, resulting in a low prevalence of 1:1,000,000 births.

How is familial hypercholesterolemia diagnosed?

There is a difficulty in diagnosing familial hypercholesterolemia and it is considered a severe and "silent" disease. The disease is usually diagnosed only by performing regular blood tests that measure the level of blood cholesterol.
Left undiagnosed it can lead to organ damage and cardiovascular complications as described.
One should suspect familial hypercholesterolemia in a young patient with a cardiac/ vascular condition from no other cause.
You cannot diagnose familial hypercholesterolemia based on a patient's weight, because usually the patients are not overweight, and there are no other evident physical signs for the disease.
Once diagnosed it is very important to perform genetic testing to all of the patient's family members.
Early treatment and prevention are very crucial in saving the patients' lives and well-being.

How is the disease treated?

In the past there was no efficient treatment for the disease and patients passed away at a very young age due to lethal cardiac/neurologic complications.
Nowadays there are several common treatments for the disease, especially using medications.
The most commonly used medications for the disease are the Statins, which act directly on inhibiting cholesterol production in the cells. When less cholesterol is produced, there is less cholesterol accumulation in the blood vessels.
Other medications work on reducing the absorption of cholesterol in the bowel. Maintaining a proper diet is very crucial as well.
The final treatment for patients with a severe disease is a liver transplant. The new liver has normal LDL-cholesterol receptors that can properly absorb cholesterol.

Maria Gonzales, a health blogger interested in a wide range of diseases and conditions, included but not limited to participatory health, health 2.0, cardiology, colesterol, and hipertension.