Patients with rare diseases have a long and difficult road to travel until they are diagnosed with their disease. Unfortunately, the loss of their most precious resource, time, steals not only from the years of life they have left, but also from the quality of each day they have now and in the days to come. One of these poorly known and rarely diagnosed diseases is transthyretin amyloid cardiomyopathy (ATTR-CM).

In Bulgaria there are more than a hundred families with this diagnosis, mostly from the endemic districts of Kyustendil and Blagoevgrad, and another 44 people identified through a screening programme. Life expectancy in ATTR-CM, when no specific treatment is administered, is short - between 2 and 4 years after diagnosis. Patients with this rare disease have a chance to receive a new therapy, which, however, must first overcome bureaucratic difficulties in this country.

"Transthyretin amyloid cardiomyopathy is caused by the accumulation of a pathological protein, amyloid, in the heart muscle, but also in other structures of the heart such as the conduction system, the valves," explains Assoc. Prof. Mariana Gospodinova, Head of the Reference Centre for Cardiac Amyloidoses at the "St. Ivan Rilski" University Hospital. People with this disease experience the signs of heart failure - shortness of breath when walking and exercising, fatigue and weakness, swelling in the legs, ankles and feet. The disease has two varieties.

"One is hereditary, caused by a genetic mutation - says Assoc. Prof. Mariana Gospodinova. ""It is diagnosed with a genetic test and its detection is important not only for the patient, but also for the whole family, because 50% of the relatives are also at risk of developing the disease. The other form is the wild type. It is not caused by a an inherited genetic change and only affects the individual patient. Interestingly, the sufferers are mostly men over 60-65 and it is less frequently found in women."

Diagnosis is a difficult and probably lengthy process. It all depends on the insight of the doctor if he/she is willing to consider that the patient may have a disease beyond those encountered in his/her practice.

"Non-cardiac complaints are also very important," the expert continues. - For instance, neurological, such as numbness and pain in the lower limbs, in the hands - these can even lead to burns because there is no sensitivity in the fingers. Subsequently, motor function is also impaired and if patients are not treated, they end up in a wheelchair."

Depending on the symptoms, patients are most often referred to an outpatient cardiologist, neurologist, gastroenterologist, and it is the responsibility of the specialists to refer them to an expert center to conduct the tests and prove or reject the diagnosis. Unfortunately, however, this series of steps is expensive and often unaffordable, as the genetic test and some of the other tests are not covered by the National Health Insurance Fund and are too expensive for many people to pay for.

"There is an approved pathogenetic specific treatment by the European Medical Agency that modifies the course of the disease. However, it is not yet available to patients in Bulgaria, as the NHIF is currently reviewing the documentation," adds Assoc. Professor Mariana Gospodinova.

Patients often need a heart transplant, which, alas, they cannot receive. "A patient who was diagnosed at 37 and is now in his forties has heart failure and was put on the waiting list for a heart transplant a few years ago," the specialist continues. - In the beginning his condition was quite favourable, but now, although he is still young, he will not live to see the operation. In Bulgaria, heart transplants are not done at all. In my opinion, we need to act faster to make things happen, but this is not a problem of doctors, but of society and the state."

Photos: Pixabay, Personal archive

Translated and posted by Elizabeth Radkova