This year, World Amyloidosis Day will be celebrated for the first time. Its originators want to draw attention to this rare disease and the situation of patients. The ambassador for World Amyloidosis Day is Eric Emmanuel Schmitt, French-Belgian playwright, essayist and novelist.
The development of amyloidosis occurs as a result of the deposition of abnormal protein deposits in the body. The accumulating deposits interfere with the normal function of tissues and organs. When the protein is deposited in the heart, cardiac dysfunction and heart failure develop, and when in the nerves, peripheral polyneuropathy develops. - Abnormal proteins can also be deposited in the osteoarticular system, in the tongue or in the gastrointestinal tract, says Dr Katarzyna Holcman, a cardiologist from the John Paul II Specialist Hospital in Krakow.
Scientists distinguish between many types of amyloidosis. One of these is transthyretin amyloidosis. The name comes from transthyretin, a protein physiologically produced by the liver that has an important function in the body. It serves to transport retinol and thyroid hormones, among others. - The disease can develop against a background of an inherited mutation in the transthyretin gene, but we also distinguish a second form, the so-called wild form, says Dr Holcman.
In Poland, transthyretin amyloidosis has been diagnosed in more than 40 patients, but it is estimated that around two hundred people may be affected.
The hereditary form of transthyretin amyloidosis usually reveals itself around the age of 50. This is because it takes time for it to develop. Zbigniew Pawłowski, who suffers from it, compares amyloidosis to a vessel into which water drips. - The vessel gradually fills up and it is only when the water starts to overflow that the disease manifests itself,' says Zbigniew Pawłowski, president of the Association of Patients with Amyloidosis, which has recently been active in Poland.
For Mr Zbigniew, the first symptoms appeared in 2017. - I led a very active sporting life. I was skiing, swimming, hiking in the mountains. Suddenly I realised that something was wrong with me. I had very weak muscles. When I fell down while skiing, I found it increasingly difficult to get back up. I was surprised because I hadn't put on any weight," says Zbigniew Pawłowski.
The man has a form of amyloidosis, in which faulty proteins accumulate around the heart and nerves. But, he says, he was very lucky anyway, as it took just over a year from the onset of his first symptoms to the diagnosis of the disease. He had visited six neurologists before he heard the diagnosis and it was only at the hospital that it was established what was wrong with him. - My cousin was ill for eight years before he found out what was wrong with him," says Zbigniew Pawłowski.
- Amyloidosis is initially difficult to diagnose, admits Dr Holcman. The first symptoms of the disease can be non-specific. To diagnose amyloidosis, specialised tests are needed. - We first perform an echocardiogram of the heart, followed by biochemical tests and cardiac scintigraphy and, in inconclusive cases, magnetic resonance imaging. With the development of diagnostic regimens for transthyretin amyloidosis based mainly on imaging studies, we now extremely rarely perform a cardiac biopsy. In the past, this invasive examination was the gold standard for the diagnosis of cardiac amyloidosis, says Dr Holcman.
Whole families can suffer from amyloidosis. This is because the defective gene is passed on from generation to generation. - It is likely that my father, who officially died of heart disease, had the defective gene in our family, but amyloidosis may have been the direct cause. I passed the faulty gene on to my two daughters, but they do not have any symptoms of the disease,' says Zbigniew Pawłowski. If doctors detect amyloidosis in a person, they invite all their family members for genetic testing.
Until a few years ago, amyloidosis patients were offered symptomatic treatment to alleviate the effects caused by the protein build-up. The only causal treatment available was either a liver transplant or a liver and heart transplant. - However, both of these types of surgery are extremely rarely performed, says Dr Holcman. - 'I have been qualified for a liver transplant, but as I am on medication, I do not need a transplant,' says Zbigniew Pawlowski.
The drug that Zbigniew Pawlowski is taking is the first to be registered in Europe for the treatment of transthyretin amyloidosis of the heart. It inhibits the deposition of protein in the body and comes in tablet form. - I take one tablet a day," says Zbigniew Pawłowski.
Currently, 33 patients are being treated at five clinical centres in Poland. The treating physicians are requesting approval from the bioethics committee for the use of the drug, which is provided by the manufacturer under charitable access. A drug programme is under review at the Ministry of Health. - Ensuring reimbursement access to this drug with a proven effect is crucial for this group of patients. When the drug was not available, patients lived between six months and four years after diagnosis. Now, thanks to the therapy, patients' clinical condition is stable. Patients are living longer. Their quality of life is also improving," says Dr Holcman.
The model of care for patients with transthyretin amyloidosis with cardiomyopathy (ATTR-CM) may soon be fully consistent with the assumptions of the adopted Plan for Rare Diseases, states Dr Jakub Gierczyński, health system expert. At present, there are 5 multi-specialist expert centres - cardiac clinics - operating in Poland, which carry out comprehensive diagnostics in cooperation with nuclear medicine laboratories. A registry is also maintained. The key challenge now is the reimbursement of the orphan drug registered in the European Union in 2020. It is the only therapeutic option for patients suffering from cardiomyopathy in the course of transthyretin amyloidosis. It should be recalled that prior to the introduction of this therapy, the average survival time of patients from the time of diagnosis of the disease was between 2 and 6 years. The results of clinical trials show that the inclusion of the new pharmacotherapy leads to a reduction in the number of deaths and prolongation of patients' lives, a reduction in hospitalisations and an increase in patients' quality of life. The new drug for the treatment of ATTR cardiomyopathy could be another drug reimbursed in orphan storage diseases such as Gaucher disease, Pompe disease, Mucopolysaccharidosis or Fabry disease. Under these programmes, the drugs are reimbursed in Poland for all patients meeting the inclusion criteria, regardless of the patient's age at diagnosis and the length of therapy. The programme for early access to therapy with a new drug for patients with transthyretin amyloidosis with cardiomyopathy (ATTR-CM) showed that the youngest eligible patient was 47 years old and the oldest 79 years old. It should also be emphasised that the proposed drug programme in transthyretin amyloidosis with cardiomyopathy could be the next drug programme for rare diseases in cardiology, following the successfully implemented and run drug programme B.31 Treatment of pulmonary arterial hypertension (TNP).
The campaign is organised by the Institute for Patient Rights and Health Education and Pfizer.