People affected by this genetic disease have significantly higher cholesterol levels than healthy people. Symptoms appear early, even in childhood, which is also associated with early development of complications. The literature reports that the vascular status of people with familial hypercholesterolaemia already resembles that of a 70-year-old at the age of 45. It is extremely important for patients to be under the constant supervision of a specialist and to follow all of his or her recommendations.

The disease is inherited in an autosomal dominant manner - this means that if one parent has one abnormal gene, there is a 50% chance that the child will also be affected. If, on the other hand, both parents have the disease, the risk increases to 75%.

Familial hypercholesterolaemia has a very insidious course. It develops quickly without any noticeable symptoms for a long time. Symptoms appear once significant vascular involvement has occurred, the most common of which are:

• chest pain - occurs during exertion, sometimes also at rest, and is a consequence of myocardial hypoxia due to obstruction of the vessels supplying blood to this organ,
• pain in the upper and lower limbs, abdominal pain, dizziness - caused by ischaemia of individual tissues and organs,
• recurrent inflammation and pain in the Achilles tendon,
• cholesterol deposits located mostly in the elbows, knees, buttocks, eyes and tendons can be irritating and inflammatory,
• corneal keratoconus - a white border around the iris caused by the deposition of fat within the structures of the eye.

If you notice any of these symptoms, you should see a specialist who will be able to determine whether your condition is due to familial hypercholestolaemia or has another cause. The basic test for making a diagnosis is to evaluate the blood lipid profile (total cholesterol, LDL, HDL, triglycerides). The value from which the diagnosis can be made is a total cholesterol level of more than 300 mg/dl and LDL more than 220 mg/dl. The choice of appropriate treatment is always based on the results of the above tests and the presence of possible complications. Lifestyle and dietary changes are equally important as pharmacological treatment. However, it should be borne in mind that in these patients it is not possible to eliminate the causative factor of the disease due to the fact that it has been inherited. A high level of patient awareness of the need for appropriate treatment is very important, as the risk of cardiovascular disease and stroke increases significantly in those who suffer from the disease but have not received appropriate treatment.