Once this disease was considered a rare disease, now doctors diagnose it more and more often. Cardiac amyloidosis is an insidious disease, it often gives non-specific symptoms such as “raccoon eyes”, or dark circles around the eyes. If left untreated, it leads to heart failure. Cardiac amyloidosis can be effectively diagnosed and better treated.
It is important to be aware of the specificity of the disease and to apply the right procedures, necessarily at the right stage, because patients do not have time for a long diagnostic process – argues prof. Magdalena Kostkiewicz, head of the Department of Nuclear Medicine at the Krakow Specialist Hospital John Paul II, an expert of the Polish Society of Nuclear Medicine.
Abnormal proteins
As the specialist explains, the deposition of characteristic, insoluble, abnormally shaped proteins in the heart plays a key role in the development of heart amyloidosis. There can be up to 30 types of them.
Two types are responsible for over 95 percent. cases of amyloidosis: immunoglobulin light chains – this is AL amyloidosis and transteritin – ATTR amyloidosis.
Prof. Magdalena Kostkiewicz
Head of the Department of Nuclear Medicine at the Krakow Specialist Hospital John Paul II, an expert of the Polish Society of Nuclear Medicine
These proteins accumulate in the heart muscle and cause its contractility to gradually deteriorate; first the diastolic function, then the systolic function. As the disease progresses, heart failure gradually develops, a serious and irreversible disease.
There are two forms of ATTR amyloidosis: wild-type acquired ATTR, also referred to as senile amyloidosis, and the inherited form.
Wild -type transthyretin amyloidosis most often affects older men with heart failure . It often coexists with carpal tunnel syndrome and changes in the lumbar spine. The disease may affect up to 30 percent. previously undiagnosed patients over 60 years of age with heart failure and sometimes with aortic valve disease.
The hereditary form of ATTR develops on the basis of mutations in the TTR gene. Reports in Poland include several dozen cases, and endemic outbreaks are present in many countries, including Japan, Italy, Portugal and the USA.
Diagnose in time
Cardiac amyloidosis is difficult to diagnose due to the non-specific symptoms of the disease.
- It can be both heart failure and an abnormal function of many organs – mainly the liver, kidneys, central nervous system, but also the gastrointestinal tract and the musculoskeletal system. There are reports of certain characteristics of the patient’s appearance, such as bruising around the eyes, which are referred to in Anglo-Saxon literature as “raccoon eyes” – dark circles around the eyes.
The patient may experience enlargement of the tongue, rupture of the brachial muscle or narrowing of the carpal tunnel. It is the systemic form of amyloidosis.
Cardiac amyloidosis is primarily its failure, the appearance of edema on the lower limbs, breathing difficulties, shortness of breath – initially occurring after exercise, then even at rest, gradual limitation of physical capacity, and cardiac arrhythmias. These are non-specific symptoms that may also apply to many other diseases, hence difficulties in diagnosis – explains Prof. Magdalena Kostkiewicz.
In order to detect the disease, a thorough medical examination is needed. An ECG, echocardiography and blood laboratory tests should also be performed. Then, cardiac magnetic resonance and isotope examination are performed.
If there are still doubts about the diagnosis after performing these tests, a heart muscle biopsy is performed. Although sometimes this study is not conclusive.
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