They are young, generally previously completely healthy, in the middle of their professional and private plans, which are suddenly interrupted by a little-known and difficult-to-diagnose disease. Thrombotic thrombocytopenic purpura - a rare, autoimmune blood disease that, if incorrectly diagnosed, in most cases leads to death. The disease appears suddenly and progresses very quickly, so every hour is important for the patient's subsequent prognosis and recovery. Lack of knowledge about the disease and misdiagnosis can lead to tragedy.
"My dream is that the disease is in remission, that I never have to visit the hospital again, that I can enjoy my life..." - says forty-six-year-old Krystyna Szczerba, who suffers from an acquired form of thrombotic thrombocytopenic purpura, a rare disease in the thrombocytopenic haemorrhagic diathesis group.
Although just four years ago her dreams reached the heights she literally and figuratively wanted to conquer, and each of her days were filled from dawn to dusk, today she dreams of one thing - that the illness will go away for as long as possible. Because that it will disappear as if by magic, she does not even dare to think, she realises that this is still impossible at the current stage of medical development.
"I don't remember much of it, only that it was like I was paralysed. I lost feeling in my right hand, I couldn't see out of one eye, I was completely weakened. At the hospital, they immediately took my blood, did some tests and ruled that I needed a blood transfusion immediately, although I had the impression that nobody knew what was wrong with me. I didn't agree, and, as it turned out later, rightly so. The doctors were persuasive, but I wanted to leave that hospital as soon as possible and get home. As we were leaving, I heard one of the doctors say to my colleagues: - I wish you luck, because in ten minutes he might die in your car," recalls 47-year-old Jacek.
- Acquired thrombotic thrombocytopenic purpura (aTTP) is an extremely rare haematological disorder of autoimmune origin.
- Every year, approximately 30 cases of aTTP are diagnosed in Poland. Most cases are reported in young people (30 to 40 years of age), women are slightly more likely to be affected
- The course of the disease is usually very dynamic and the patient's condition deteriorates very rapidly. The disease may begin with fever, followed by ischaemic damage to internal organs and symptoms associated with an episode of aTTP, which result from ischaemic damage to organs: brain, kidneys, heart or lungs.
- Experts point out that the occurrence of an episode of aTTP can pose a serious threat to the patient's life.
- Key to understanding the problems of affected patients is education and the provision of knowledge about the disease, particularly where time to diagnosis plays a significant role (e.g. emergency rooms, specialist doctors).
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Thrombotic thrombocytopenic purpura (aTTP) in its acquired form is an extremely rare haematological disorder of autoimmune origin. This disease, also known as Moschcowitz syndrome, belongs to the group of thrombocytopenic haemorrhagic diathesis. Its non-specific symptoms usually appear suddenly and the failure to recognise, and therefore implement treatment, leads to the death of the patient in most cases. It is estimated that up to 80-90 per cent of cases may be affected. The acquired form of thrombotic thrombocytopenic purpura occurs mainly in adult patients and is due to blocking of metalloproteinase (ADAMT13) function by autoantibodies.
Young, healthy people get sick. Every year, approximately 30 cases of aTTP are diagnosed in Poland. Most cases are reported in young people (30 to 40 years of age), and women are slightly more commonly affected. The causes of the disease are not fully known, but connective tissue diseases such as lupus erythematosus or rheumatoid arthritis, infections such as HIV, CMV, obesity and, in some women, pregnancy, are at the root of the disease. Certain medical procedures such as blood stem cell transplants or bone marrow transplants, as well as the use of certain medications, can also be contributing factors for episodes of the disease.
Rapid course of the disease. The course of the disease is usually very dynamic and the patient's condition deteriorates very rapidly. The disease may begin with fever, followed by ischaemic damage to internal organs and the symptoms associated with an episode of aTTP that result from ischaemic damage to organs: brain, kidneys, heart or lungs. These are usually: headaches, confusion, visual disturbances, paresis, seizures, cardiac arrhythmias, respiratory failure.
Early diagnosis necessary. Experts point out that the occurrence of an episode of aTTP can pose a serious threat to the patient's life. The reason for this is the phenomena of severe ischaemia and damage to organs such as the brain, heart, lungs and kidneys that occur in this disease.
Therefore, the correct and early diagnosis of thrombotic thrombocytopenic purpura, allows the appropriate treatment steps to be taken quickly and saves the patient's life.
The diagnosis of the disease and the correct determination of its form (congenital from acquired) is only possible on the basis of the results of the metalloproteinase ADAMST13 activity, which is performed using a special test to determine the activity of this enzyme, and the diagnosis of aTTP is established on the basis of a triad of symptoms: thrombocytopaenia, haemolytic anaemia and ischaemic organ damage.
Frequent relapses. The disease causes sudden, intractable symptoms and leads to significant organic daily life. Its diagnosis is associated with a significant psychological as well as economic burden for young people, who have to disengage from their previously active working life overnight. The occurrence of an episode of aTTP represents a serious threat to life and is also associated with a deterioration in the quality of life of mostly young and, until the episode, completely healthy individuals. Even with prompt diagnosis and use of currently available treatment, after a few days or weeks of treatment, approximately 30% patients will relapse.
Implementation of optimal treatment. The currently available treatment options for patients with aTPP are associated with a heavy burden for patients, who have to endure long and tiring plasma exchange cycles. The challenge now, therefore, is to introduce a new therapeutic option that reduces the number of plasmapheresis that burden patients and, above all, the number of episodes of the disease.
A breakthrough therapeutic option for the treatment of the congenital form of the disease (aTTP) is biological therapy with a monoclonal antibody - used as an adjunct to standard therapy (PEX + immunosuppression), which prevents platelet adhesion stimulated by ultra large von Willebrand factor (and consequently thrombus formation).
Every hour counts. Key to understanding the problems of affected patients is the education and provision of knowledge about the disease, especially where time to diagnosis plays a significant role (e.g. emergency rooms, specialist doctors). This is why the first information campaign was launched from patient organisations in 2020, "aTTP. Every hour counts" which aims to draw attention to this little-known disease and the major problems faced by Polish patients diagnosed with aTPP. The campaign includes a film telling Krystyna's story and information materials about the disease.
The campaign is organised by the Institute for Patients' Rights and Health Education and the Federation of Polish Patients, and partners are the National Forum for Rare Disease Therapy ORPHAN, the Brain Stroke Foundation. The patron of the campaign is Sanofi.