Hypercholesterolaemia is a disease that affects as much as 61% of people. Poles. The number of patients in Poland is estimated at approx. 140 people. Most of them do not know that they suffer from familial hypercholesterolaemia and are consequently not treated. Currently, only about 000 percent. of them is diagnosed.
Hypercholesterolaemia is the worst-controlled cardiovascular risk factor in Poland. Familial hypercholesterolaemia is the most dangerous. It is a much rarer, genetically determined, hereditary disease that is associated with the presence of elevated cholesterol levels from birth and is asymptomatic for many years. Most patients are not even aware of the problem and find out about the disease only at the time of its most severe complications, i.e. heart attack or stroke. Some patients die of a heart attack or stroke, and their relatives do not know that the real cause of death was undiagnosed and untreated familial hypercholesterolaemia. The disease affects young, active people, often caring for a proper diet. Heart attack, stroke and death from atherosclerosis affect these patients prematurely at an early age.
We inherit familial hypercholesterolaemia from our parents. The risk of passing it on to offspring is 50%. Familial hypercholesterolaemia should already be diagnosed in children, because the earlier the treatment is started, the more effectively we reduce the risk of a heart attack, stroke or premature death. Effective therapy can equalize the cardiovascular risk in patients with familial hypercholesterolaemia with that in those without the condition.
– Cases of familial hyperlipidemia are already detected in children. There are 2-year-olds who have the onset of atherosclerosis. This is a very serious problem, mainly with the diagnosis – says Beata Ambroziewicz from the Polish Union of Patient Organizations.
– The problem with the diagnosis of familial hypercholesterolaemia is that we do not have symptoms very often, as long as there are no complications from the disease itself. Then the manifestation is quite dramatic, because the patient has a classic stroke, myocardial infarction, coronary artery disease or other complications of atherosclerosis – says Krzysztof Chlebus, MD, PhD from the Family Hypercholesterolemia Clinic in Gdańsk.
Most patients do not know that they suffer from familial hypercholesterolaemia and are consequently not treated. This is due to the low social awareness of the disease, insufficient knowledge in the medical community and the lack of systemic solutions that would include full care for patients with family hypercholesterolaemia (diagnosis and treatment). Unfortunately, this disease entity does not have separate financing.
– So far, we do not have any registry on this disease, which is the most common genetic disease in our population. We are far, far behind a country such as the Netherlands, where family hypercholesterolaemia is known and diagnosed at over 70 percent. and we have less than 1 percent. – comments Dr. hab. n. med. Marlena Broncel from the Medical University of Lodz.
The problem is not only diagnostics, but also treatment. Patients can count on statin therapy, ezetimibe, but in some cases this is not enough and LDL apheresis is required – a procedure similar to dialysis, which is very burdensome for patients. It lasts several hours, has to be repeated every two weeks, it is also quite expensive and only 3 centers in Poland offer such therapy. Today, apheresis can be replaced with new, effective and much more convenient drugs, PCSK9 inhibitors.
– Innovative drugs in the treatment of hypercholesterolaemia, PCSK9 inhibitors are unfortunately not reimbursed in Poland at the moment. Patients are waiting for such availability. For this special group of patients with familial hypercholesterolaemia, which is refractory to treatment, only the very burdensome LDL-apheresis procedure, which consists in mechanically clearing the blood of LDL cholesterol, is available at the moment. Patients must undergo such a procedure every 1-2 weeks. The procedure takes several hours. The patient must be hospitalized. The procedure itself is expensive and budgetary. Patients have to travel even several hundred kilometers, because apheresis is only available in 3 centers in Poland – adds Beata Ambroziewicz.