A potentially fatal disease you've probably never heard of
26 October 2022 marks the second World Amyloidosis Day. The idea for the celebration came from patients, who want to draw attention to this rare disease and present the most important needs of patients in this way.
Disease like a detective mystery. An athletic boy has trouble running, a healthy girl loses her voice, an active mother feels nausea and sudden severe fatigue - to discover what causes these situations, doctors have to turn into detectives. Even so, they are not always able to detect the culprit. In the meantime, it may be amyloidosis, which often impersonates other conditions. Symptoms can range from an irregular heartbeat to difficulty swallowing, shortness of breath, severe fatigue or swelling of the legs and ankles. The disease caused by abnormal protein deposition is one of the most misdiagnosed in the world. However, the correct outcome of the investigation is very important: because the enemy is deadly, untreated amyloidosis is lethal. The first step to disarm the enemy is to know him.
What do we know about 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 likely to be much larger.
Age is also not that important - although it is more often detected in older people, the first symptoms can appear between 30 and 90 years of age. But the disease is most commonly diagnosed between 50 and 75 years.
First report on amyloidosis. As part of the Polish celebrations of World Amyloidosis Day, the Institute for Patients' Rights and Health Education has just published the first report on the disease, entitled 'Amyloidosis. Cardiac transthyretin amyloidosis From the patient's perspective. The aim of the publication is to present the optimal diagnostic and therapeutic pathway for a patient with cardiac amyloidosis.
In the report, the authors - clinicians, health system experts, patients - presented key findings and recommendations. Key ones include
- to optimise the diagnostic and therapeutic process for transthyretin amyloidosis of the heart based on the experience to date of specialised clinical centres in Poland;
- public reimbursement of the drug tafamidis within the framework of the drug programme 'Treatment with tafamidis of cardiomyopathy in the course of transthyretin amyloidosis in adults',
- building knowledge of transthyretin amyloidosis of the heart among cardiologists and general practitioners, as well as through patient associations and the media for public awareness of the disease.
Up to five doctors of different specialisations. One of the main problems of the disease is its late diagnosis. As he says Jacek Grzybowski, MD, PhD, professor at the National Institute of Cardiology - head of the Division of Cardiomyopathy, a few years ago the results of a study conducted in the USA were published, which showed that only 10 per cent of patients were diagnosed with amyloidosis by their first specialist doctor. In contrast, at least a quarter of patients had been 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.
"Early diagnosis is very important because it is a progressive disease, amyloid is being deposited in the myocardium all the time and once the heart is largely occupied with amyloid, the progression of heart failure symptoms starts very quickly. In the late stage of the disease, there are no longer any treatment options. Recently, new drugs are emerging and there are prospects for causal treatment, so early diagnosis is all the more important. Advanced stage ATTR-CM in untreated patients is associated with serious cardiac complications and worse median survival. Once diagnosed, the median survival of untreated patients with ATTR-CM and heart failure symptoms is approximately 2 years to 3.5 years. Early, accurate diagnosis can benefit patient care and enable better treatment outcomes." - concludes the report Jacek Grzybowski, MD, PhD.
A disease inherited from generation to generation. He speaks very artfully about the disease Zbigniew Pawłowski, President of the Amyloidosis Patients Associationwhich has been active in Poland for more than a year - comparing 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 becomes apparent. - says Pawlowski.
Hence, knowledge of the disease is so crucial. In the UK or France, there are specialised centres focused only on such patients, making diagnosis much easier. But also the subsequent treatment.
In Poland, the lack of experience does not make the situation easier for patients. Awareness of the disease among doctors is low, so many patients sometimes spend years wandering from doctor to doctor in search of the right diagnosis. Therefore, educational activities among patients and doctors - primarily cardiologists and PCPs - are very important in order to speed up diagnosis and initiate life-saving therapy. This is all the more so because, in most cases, the disease is genetic and whole families are affected: it is transmitted from one generation to the next.
The need to educate doctors is also highlighted in the report Prof. Dr. med. Piotr Podolec, Head of the Department of Cardiovascular Diseases at the Institute of Cardiology of the Jagiellonian University Cm at the John Paul II Krakow Specialised Hospital: In order to improve what has been neglected to date, it is undoubtedly necessary to improve the awareness of doctors, not only cardiologists, neurologists and rheumatologists, but above all primary care doctors and family doctors, and to rapidly implement a National Plan for Rare Diseases. Following the example of other countries, it is necessary to establish regional centres for rare diseases where, in addition to research and comprehensive patient care, registries and international consultations would be carried out.
The match ends after the final whistle. 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. Fortunately, it turned out not to be entirely true. Because there is access to a life-saving drug. The medicine is there. It is there and it works. Thanks to the early access programme, myself and the other 32 patients are receiving tafamidis - Zbigniew Pawłowski calculates.
A further 18 patients are waiting to gain access to the drug. The therapy Pawlowski is receiving is the first to be registered in Europe for the treatment of transthyretin amyloidosis of the heart. It inhibits the deposition of the protein in the body and comes in tablet form. The early access programme for patients with transthyretin amyloidosis with cardiomyopathy to receive treatment with the new drug showed that the youngest qualified patient was 47 years old and the oldest 79 years old.
"The game is over when the final whistle blows, so let us not allow the great effort of so many to fail to result in the finale of access to a drug for so few. Let us not allow transthyretin heart amyloidosis therapy to be a white spot in the group of rare diseases that have received public reimbursement for effective therapies in Poland. Let's all play to the end until the final whistle, and then let's all enjoy a joint victory - the public reimbursement of tafamidis for the treatment of cardiac amyloidosis in Poland." – Zbigniew Pawłowski concludes.
Hope in the Fund. In the latest report "Cardiac transthyretin amyloidosis from the patient's perspective' Dr Jakub Gierczynski, MBA, 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 also indicates that the situation in Poland is improving for the diagnosis and treatment of patients with rare diseases, which is in line with the assumptions of the Plan for Rare Diseases and the Medical Fund adopted. Reimbursement decisions by the Minister of Health in the last few years have significantly improved reimbursement access for rare disease patients to effective treatment. 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. According to the Ministry of Health, 68 new molecules were reimbursed in 2021, including 29 in rare diseases, and by September 2022, 84 new molecules had already been reimbursed, including as many as 32 in rare diseases
People and their stories. One of the key actions carried out as part of World Amyloidosis Day is for patients to share their stories. One of them is Éric-Emmanuel Schmitt, the French writer, known in Poland for his novel 'Oscar and Rose', who has become an ambassador for this campaign and is talking about his experiences with the disease.
When I was young my father never played football with me, never ran, and was often so tired he couldn't make it to bed. We knew he was fighting some mysterious illness that no one ever named and no one knew. He passed away before my 11th birthday. I missed him - This is how the French writer begins his story.
When Schmitt grew up he wanted to start diving for his father, who loved the sea. However, it soon became apparent that he couldn't. His legs went numb, he was too weak. As he recounts, he went to a neurologist who said it was a kind of neuropathy.
I was reminded of my father, that word that came up when he was ill. I tried to understand what it was about. I felt anger. It wasn't until I changed doctors a few years later that I had genetic tests done and then I heard the word for the first time: amyloidosis - he says.
That's when he heard that there was one hospital in the whole of France with one outstanding specialist dealing with it.
Suddenly everything became clear: why my father died, why my grandfather died so young. It felt like a detective story, when in the final chapter the detective reveals the solution - only too late. Because the crime had already been committed - recalls the writer. He began to fight: treatment, a pacemaker, a transplant. When he recovered a bit he started riding a motorbike, something his grandfather loved.
I believe that my father and my grandfather see me and are proud of me. Because although I became physically weak because of amyloidosis, I gained strength. Strength to fight the disease that took them away. And I feel an immense love. Love for life - says in a highly suggestive manner on the recording Éric-Emmanuel Schmitt.
Download Report Cardiac transthyretin amyloidosis from a patient's perspective
https://ippez.pl/raporty/amyloidoza-transtyretynowa-z-perspektywy-pacjenta/