The first report dedicated to amyloidosis - a rare and potentially fatal disease with non-specific, difficult-to-diagnose symptoms - has been produced. The report 'Cardiac transthyretin amyloidosis from the patient's perspective', developed by the Institute for Patient Rights and Health Education in collaboration with experts and patients, aims to present the optimal diagnostic and therapeutic pathway for a patient with cardiac amyloidosis, identify solutions, and highlight the problems faced by patients with this rare disease.
According to the recently published results of a US study, only 10 per cent of patients were diagnosed with amyloidosis by their first specialist doctor. In contrast, at least a quarter of patients were examined by at least five doctors from different specialities before a diagnosis of amyloidosis was made. This, according to experts, is unacceptable at a time when available therapies can significantly improve the daily lives of patients and their loved ones and increase life expectancy.
Amyloidosis - what is the disease?
Amyloidosis is a rare disease in which deposits of abnormally structured proteins are deposited in the body. Forms of amyloidosis can manifest as various diseases. When the protein is deposited in the heart, cardiac disorders and heart failure develop, and when in the nerves, peripheral polyneuropathy develops. Scientists distinguish between many types of amyloidosis. One of these is transthyretin amyloidosis affecting the heart (ATTR-CM).
Some forms are hereditary, while others are acquired (called wild-type). Every year, one person per hundred thousand inhabitants falls victim to amyloidosis. In Poland, amyloidosis has been diagnosed in a few dozen people, although doctors say the scale is probably much larger. Age is also not that important - although it is more often detected in older people, the first symptoms can appear between the ages of 30 and 90. But the disease is most commonly diagnosed between 50 and 75.
In Poland, it is primarily patients who are confronted with a lack of experience of the disease among doctors. Awareness of the disease among doctors is low, hence many patients sometimes wander from doctor to doctor for years in search of the right diagnosis.
There is a drug, there is no reimbursement
Dr Jakub Gierczynski, a healthcare expert, highlights that tafamidis is currently reimbursed in 15 EU/EFTA countries. In Poland, it is estimated that therapy with this drug could affect approximately 109 patients treated in the first year after the drug programme comes into force, of which 42 are new patients, and 141 potentially treated patients in the second year of public reimbursement of tafamidis (of which 51, are new patients). It is worth noting that access to effective treatment for patients with rare diseases has improved significantly in recent years. Patients with Fabry disease, spinal muscular atrophy, blood cancers, acromegaly, Wilson's disease, haemophilia A and B in children and other diseases have received reimbursement for new drugs. Therefore, the authors of the report, among the most important conclusions and recommendations, point to the need for reimbursement of the drug tafamidis within the drug programme "Treatment of tafamidis for cardiomyopathy in the course of transthyretin amyloidosis in adults".
They also add that it is necessary to optimise the process of diagnosis and therapy of transthyretin amyloidosis of the heart, based on the experience to date of specialised clinical centres in Poland, and to build knowledge of the disease among cardiologists and PCPs, and through patient associations and the media, public awareness of the disease.
Patients are waiting for therapy
Zbigniew Pawlowski, who was diagnosed with cardiac amyloidosis at the age of 53, recalls that when asked after receiving the diagnosis: "What next? What do I do?" the eminent professor said simply: "I don't know". - That sentence was simply taking away from us what was most important: hope," he says. However, thanks to the early access programme, he and the other 32 patients are receiving tafamidis. The youngest qualified patient is 47 years old and the oldest is 79 years old.
A further 18 patients are waiting to gain access to the drug, which inhibits protein deposition in the body. - The game is over when the final whistle blows, so let's not let this great effort by so many not result in the finale of access to the drug for so few, says Zbigniew Pawłowski.
Source: cowzdrowiu.pl