Acquired Transmural Thrombocytopenic Purpura (aTTP/iTTP)
When the brilliant physicist cannot hold a pen and becomes severely dizzy, he ends up in hospital. The doctors, who for a long time are unable to detect what the mysterious illness might be, eventually diagnose him with thrombotic thrombocytopenic purpura (aTTP). This is the plot of an episode of the US series Dr House. In the film, the medics eventually diagnose the patient quite efficiently, but not everyone is fortunate enough to be under the care of the brilliant Dr House and cannot always count on a quick diagnosis. International Thrombotic Thrombocytopenic Purpura Day is celebrated worldwide on 19 September to draw attention to the problems faced by those struggling with this rare disease.
Acquired thrombotic thrombocytopenic purpura is an unusual condition - a rare disease that affects approximately 1 person per 100,000 thousand, or 4-6 million people per year worldwide. In Poland, 30 cases are diagnosed annually. It is gratifying that it affects only a small number of patients, but this has its dark side: there is a lack of common knowledge about the disease and the experience that is so necessary to detect the problem. Meanwhile, diagnosis is a key element, as people with aTTP/iTTP need help very quickly. The later treatment is initiated, the worse the prognosis. Despite treatment, the mortality rate in affected adults is high at around 20 per cent; without treatment, it is as high as 90 per cent. The disease recurs in almost one in three patients, usually within about two months of the first episode.
An unpredictable disease with a violent course. There is another problem with this rare disease: it is unpredictable and can affect anyone. It is either congenital (cTTP), resulting from a gene mutation that occurs most often in childhood, or acquired (aTTP). The latter form of thrombotic thrombocytopenic purpura occurs mainly in adult patients - most cases of aTTP are reported in patients between the ages of 30 and 40, and women are more often affected. Patients present to their doctors with atypical symptoms: not only dizziness and motor disturbances or paresis, but also headaches, visual disturbances, seizures, cardiac arrhythmias, sudden respiratory distress or severe abdominal pain, as well as bruising in various parts of the body. Only when it is detected that this disease entity is involved explains why the sudden changes have occurred.
What are the causes of the disease? aTTP/iTTP is an autoimmune (the body attacks itself) blood disease. The disease causes platelets to clump together, resulting in the formation of blockages in the small arteries and capillaries. The resulting clots begin to clog all the vessels, resulting in an inability to supply blood to the relevant organs. The blood tries to push through and then the erythrocytes mechanically start to be damaged by the clots, break down and fragments of these erythrocytes start to appear in the bloodstream. This impairs blood flow to the organs, leading to hypoxia and organ damage. The consequences can be very dangerous, as the disease can cause stroke, ischaemic heart attack, ischaemic kidney damage, respiratory failure or many other dangerous organ damage that can cause the patient's death. Risk factors include obesity, HIV, rheumatoid arthritis and lupus erythematosus. Recent studies also suggest that it may be one of the side effects of COVID19. It can also occur with blood stem cell transplantation or bone marrow transplantation, as well as an effect of taking certain medications. Detection is possible with special tests that diagnose the activity of the ADAMST13 enzyme. There is a wait of several days for results. There are also rapid screening tests, unfortunately used very rarely in Poland. There are several treatments that should be implemented immediately after diagnosis. One is transfusion of fresh frozen plasma together with plasmapheresis for ADAMTS-13 supplementation and removal of anti-ADAMTS-13 antibodies.This, however, is associated with long hospital stays.Experts indicate that the occurrence of an episode of aTTP can pose a serious threat to the patient's life. Therefore, a correct and early diagnosis of thrombotic thrombocytopenic purpura, allows the appropriate treatment steps to be taken quickly and saves the patient's life.
Polish patients are waiting for new therapeutic options. Currently available treatment options for patients with acquired thrombotic thrombocytopenic purpura (aTPP/iTTP) are associated with a high burden for patients, who have to endure long and tiring plasma exchange cycles. Therefore, the challenge now 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. New therapeutic options are available worldwide, such as monoclonal antibody biologic therapy - used as an adjunct to standard therapy (PEX + immunosuppression)j, which can reduce the number of plasmaphereseses that burden patients and above all reduce the number of disease episodes. However, they are still not available in Poland.
***TTP patient education and support campaign - 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 informative campaign, 'aTTP. Every hour counts' which aims to draw attention to this little-known disease and the most important problems of Polish patients diagnosed with aTPP/iTTP. The campaign included a film telling Krystyna's story, as well as information materials on the disease.
Seeing the need for: support, education and integration of patients with this rare blood disease in January this year, on the initiative of patients, we set up a Support Group: Thrombotic thrombocytopenic purpura (TTP) - our disease and that of our loved oneswhich aims to exchange information, increase knowledge about the disease, modern treatment, improve the quality of life of patients with aTTP/iTTP and, above all, support each other.
As part of the campaign, an aTTP/iTTP patient card has also been created in collaboration with Prof. Dr. Grzegorz W. Basak to help patients who end up in hospital for prompt and appropriate medical intervention. The card can be ordered by free patients by sending a special request on the Support Group.
Ohe campaign is organised by the Institute for Patients' Rights and Health Education, the Haematooncologic Association, the Polish Patients' Federation, the National Forum for Rare Disease Treatment ORPHAN, and the Brain Stroke Foundation. The campaign's partner is Sanofi