Attyretin amyloidosis (ATTR) is a rapidly progressive rare genetic disease. Among other things, it leads to hypertrophy of the heart muscle. It is caused by the accumulation of an abnormal protein, namely amyloid, in the body. For doctors, it is still difficult to detect. In the words of Zbigniew Pawłowski, president of the Association of Families with Amyloidosis TTR, one has to be very lucky if one is unlucky in the form of this one gene...
With Medexpress guest Zbigniew Pawlowski, a patient and president of the TTR Amyloidosis Families Association, we talked about, among other things:
- The first non-obvious symptoms of the disease, which are very easy to underestimate.
- A fortunate case that resulted in a diagnosis.
- The knowledge and experience of doctors in dealing with this disease and the available sources of information on amyloidosis that patients can use.
- A difficult - for Mr Zbigniew's close family - decision to undergo diagnosis for amyloidosis.
- Therapies available worldwide. In Poland, the only treatment used so far is a liver transplant, but doctors are not sure if this is effective. A group of patients (27 under treatment) have been patronised by a pharmaceutical company and are receiving the treatment. The company is seeking reimbursement for the drug in Poland. The monthly therapy is around 30,000 PLN. In France the drug is fully reimbursed, in Germany it costs about 60 Euros.
- To support the association founded by Alicja and Margaret Wolszon and continue its mission towards patients with this rare disease.
Source: medexpress.co.uk
The campaign is organised by the Institute for Patient Rights and Health Education and Pfizer.