Only 1 percent. of patients with familial hypercholesterolaemia knows that they have this disease, which has very serious health consequences. Unfortunately, not all of them can afford modern therapy that is not reimbursed.
Familial hypercholesterolaemia is a disease that results in a very high level of so-called bad cholesterol-LDL in the blood from birth. It is most often detected accidentally, when the first symptoms of the disease appear, often not associated either by a doctor or by a patient with hypercholesterolaemia, e.g. in the case of long-term Achilles tendon complaints. It is the result of cholesterol accumulation due to a significantly elevated concentration of cholesterol in the blood due to a malfunction of the gene responsible for cholesterol metabolism in the body. Experts emphasize that in order to protect patients from the fatal consequence of this disease – coronary heart disease – restrictive pharmacotherapy is necessary. The problem for patients is both access to modern therapies and diagnosis of the disease.
The problem with familial hypercholesterolaemia is that symptoms rarely occur early in the course of the disease at an early age. One of the common symptoms that may appear are the so-called tendon yellows, mainly Achilles tendons. This is nothing but a slightly thickened tendon that starts to hurt. Most often, for a sore tendon, the patient is given a non-steroidal anti-inflammatory drug or other painkiller and is referred to an orthopedist. Unfortunately, this causes randomness in the diagnosis and postponing the diagnosis of familial hypercholesterolaemia – says Dr. n. med. Marlena Broncel, Department of Internal Diseases and Clinical Pharmacology, Medical University of Lodz.
In people suffering from familial hypercholesterolaemia, very high levels of LDL-cholesterol are present from childhood. If the disease is diagnosed only in adulthood, the patient usually has advanced atherosclerosis and impaired heart function. In such a situation, in addition to the immediate implementation of pharmacotherapy lowering LDL-cholesterol levels to safe levels, the first cardiological interventions are undertaken, such as angioplasty or stent implantation in the coronary arteries.
– After orthopedic surgery for the left Achilles tendon, it turned out that I suffer from hypercholesterolaemia. Orthopedists treated me for a long time, made blockages, used anti-inflammatory drugs. After all, they didn’t know what to do with me anymore and opened my hamstring. It turned out that fat deposits are depositing on my tendons – says Anna Kapica-Marynowska, a patient.
Only 1 percent. of patients with familial hypercholesterolaemia knows that they have this disease, which has very serious health consequences. These are patients at high or very high risk of myocardial infarction or stroke, patients who can count on reimbursement of statin and LDL-apheresis treatment. Unfortunately, not all of them can afford modern therapy with PCSK9 inhibitors, which is not reimbursed.
– PCSK9 inhibitors are an ideal drug for patients who do not respond properly to treatment or, for example, cannot take statins because they suffer from muscle aches. These are state-of-the-art drugs in the form of antibodies, which are injected every two weeks. Their effectiveness in the case of this disease is at the level of 50%, i.e. from the level at which we are, we can obtain an additional 50%. reduction of LDL cholesterol. Most of the patients treated with these modern drugs achieve the treatment goal, which means that the risk of a heart attack or stroke is significantly reduced, says Agnieszka Mickiewicz, MD, PhD, I Chair and Clinic of Cardiology, Medical University of Gdańsk.