AADIC alerta: só através do diagnóstico precoce poderemos controlar a doença

October 26th is World Amyloidosis Day

Rare but particularly serious – once diagnosed, it has an average life expectancy of three and a half years – Transthyretin Amyloid Cardiomyopathy (ATTR-CM) can be confused with other cardiac pathologies and is a cause of heart failure.

To mark World Amyloidosis Day, celebrated on October 26, the Association for the Support of Patients with Heart Failure (AADIC) warns – the sooner it is identified, the better the chances of quality survival. Early diagnosis and appropriate therapy are essential for good disease management.

Given the prognosis and estimates of average life expectancy, coming to live with a diagnosis of ATTR-CM will always be a complicated process. To mark World Amyloidosis Day, we reinforce the importance of early diagnosis of diseases such as ATTR-CM (Transthyretin Amyloid Cardiomyopathy). Detecting and identifying the disease at an early stage will allow us to better manage the disease, adopt the most appropriate therapy and ensure the quality of survival.

Despite being rare, ATTR-CM is a very serious disease. From a certain age, we must be particularly attentive to signs and symptoms and ensure that we scrupulously adhere to the clinical calendar and medical appointments. Only in this way will we be able to detect this and other diseases, and immediately proceed with their management.

On this World Amyloidosis Day, we also remind you that it is possible to live with this disease with quality. The use of support from peers and health professionals can prove to be fundamental to controlling it. The sharing of knowledge, experiences and relationship with those who specialize in the area or are in a similar situation is, in the overwhelming majority of cases, important pillars in the daily management of the patient. Don’t isolate yourself.

What is ATTR-CM?

Transthyretin Amyloid Cardiomyopathy (ATTR-CM) is considered a rare but potentially fatal disease: it is estimated that once diagnosed, the patient may have a survival of only three and a half years. However, it all depends on the stage of the disease and treatment options.

The disease arises from the accumulation of denatured proteins in the heart and body and is divided into two types: wild type (also known as Senile Cardiac Amyloidosis) and hereditary. In the case of the wild type, the disease is idiopathic, that is, its cause is unknown. It is especially common among Caucasian men, especially those who suffer from heart failure or arrhythmias such as atrial fibrillation, or who have a history of bilateral carpal tunnel syndrome. Tendentially, it begins to manifest itself from the age of 60.

The symptoms of hereditary ATTR-CM tend to start a little earlier, usually between the ages of 50 and 60. It has the same incidence in males and females and is associated with heart failure, neurological (peripheral and autonomic) and/or gastrointestinal symptoms, and a clinical history of bilateral carpal tunnel syndrome.

Signs that you may have ATTR-CM

Because it affects the heart, ATTR-CM has, in most cases, symptoms and signs of heart failure. Extreme tiredness, difficulty breathing, constant tachycardia, swelling in the legs or abdomen, increased frequency and need to urinate at night, dizziness, fainting or weight gain are quite common in this condition. There may also be other symptoms caused by the deposit of amyloid fibres in the body, such as eye problems (eg Glaucoma), rupture of the biceps tendon without trauma, gastrointestinal problems (eg diarrhoea, constipation, nausea or early satiety ), need for hip and/or knee joint replacement, bilateral carpal tunnel syndrome (numbness, tingling and pain in the fingers), lumbar spine stenosis (pain or numbness in the lower back and legs due to narrowing of the canal spinal cord), peripheral neuropathy (diminished or tingling sensation or pain in the feet or toes) or arrhythmia.

How is the diagnosis arrived at?

The diagnosis of ATTR-CM can be suspected by the clinic (symptoms and signs) and by certain findings on electrocardiogram (ECG), echocardiogram, or cardiac magnetic resonance imaging (MRI); and can be confirmed by using bone scintigraphy [which can confirm the presence of the transthyretin protein (TTR) in the heart]. Genetic testing is essential to determine whether the origin is hereditary or not. Blood and urine tests will be important during the evaluation of the patient as they will also allow the exclusion of other causes of amyloidosis. Finally, we cannot forget that a biopsy may be necessary to confirm the presence of amyloid substances.

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