The symbolic presentation of the award to Professor Andrzej Rynkiewicz from the Department of Cardiology and Internal Medicine of the Faculty of Medicine of the University of Warmia and Mazury took place on 3 December during the 10th Congress of the Polish Lipid Association, which was held online due to the coronavirus pandemic.
“I was one of the first researchers in Poland to study familial hypercholesterolemia for many years. Familial hypercholesterolemia is the most common monogenic disease, leading to the highest number of deaths in the course of coronary arteriosclerosis or cerebral stroke. In the past, it seemed that only one gene, the so-called LDL receptor gene, was responsible for this disease. Today we know that there are more genes that can cause such a clinical picture of familial hypercholesterolemia,” explains Professor Rynkiewicz.
The estimated number of patients with familial hypercholesterolemia in Poland is 150,000. About 10,000 have been diagnosed.
“I have succeeded in promoting the idea that this disease exists and in getting doctors interested in this problem. I have managed to convince them that they should look after patients with premature infarction, for example, before the age of 50, and who have high atherosclerosis, most often due to high cholesterol levels. This is the group of suspected patients, who should be examined for familial hypercholesterolemia. The diagnosis of this disease initiates the so-called family diagnosis, when the closest family, the patient’s parents and children should be examined,” stresses Professor Rynkiewicz.
On average 1 person in 250 in Poland suffers from familial hypercholesterolemia. Most patients are not aware of their condition. The risk of developing premature coronary artery disease in patients with family hypercholesterolemia is approximately 20 times higher than in the general population. It is believed that a man with familial hypercholesterolemia has a 50% chance to live to the age of 50 unless he takes cholesterol lowering medication. The probability of transmitting the disease to a child is as high as 50%. Familial hypercholesterolemia can occur even in several successive generations.
“I am very satisfied that I have been appreciated by the lipidology research community. I think this will contribute to the promotion and education in the field of familial hypercholesterolemia. We still have a lot to achieve in this area,” concludes Professor Rynkiewicz.