Cardiac amyloidosis: what it is and tests for diagnosis

By Cristiano Antonino On Sep 23, 2022

Let’s talk about cardiac amyloidosis: when we talk about heart disease, we are referring to a type of heart disease that affects the heart muscle, impairing its function

These include cardiac amyloidosis, a complex disease that cannot be prevented

It was once considered a rare disease, but recently, improved diagnostic tools and greater attention to early manifestations of the disease are leading to an increasing number of diagnosed cases.

Amyloidosis is caused by an abnormal accumulation of an insoluble protein complex (amyloid) in various organs, including the heart.

As the amyloid spreads into the interstices between cardiac contractile cells, it contributes to their damage, impairs their proper functioning, and causes the walls of the myocardium to stiffen.

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What causes amyloidosis?

There can be different causes behind amyloidosis. The most common forms of amyloidosis are two: light chain amyloidosis (AL amyloidosis) and transthyretin amyloidosis (ATTR amyloidosis).

AL amyloidosis is not hereditary and is triggered by an overproduction of light chains, i.e. antibody fragments by a clone of plasma cells.

ATTR amyloidosis, on the other hand, is triggered by the accumulation of the transthyretin protein and can occur either in the absence of mutation or in a mutated and thus hereditary form.

Other forms, on the other hand, are rarer: the form caused by a deposition of apolipoprotein A, the form associated with beta 2-microglobulin deposits associated with long dialysis treatments, or the form associated with chronic inflammatory diseases.

Tests to diagnose cardiac amyloidosis

The tests to reach a diagnosis are different and include

blood tests, to rule out haematological pathologies;
the electrocardiogram and colour Doppler echocardiogram;
bone tracer scintigraphy;
cardiac MRI.

When the diagnosis is transthyretin amyloidosis, a genetic analysis is appropriate to detect hereditary forms associated with mutation.

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Heart failure and hypotension: symptoms of cardiac amyloidosis

Symptoms related to altered cardiac function include shortness of breath, swelling of the ankles, palpitations, and hypotension even in the absence of antihypertensive therapy.

The manifestations of amyloidosis related to the involvement of all other organs and apparatuses can be many, including bilateral carpal tunnel syndrome, decreased sensitivity of the limbs, and alterations in kidney, liver and gastrointestinal function.

In fact, amyloid deposits can be found in one or more organs in different combinations, causing extremely varied symptomatology.

New treatments for cardiac amyloidosis

When it comes to cardiac amyloidosis, in short, heart failure is a real risk.

Moreover, as we have said, it cannot be prevented.

For this reason, correct information about the disease is of particular importance because it helps to detect the disease early and intervene promptly with the most appropriate treatment to contain the symptoms.

For the two most common forms of amyloidosis, light-chain amyloidosis and ATTR amyloidosis, new drugs are available, also taking into account the possible association of neurological symptoms, while, if the underlying cause is a haematological pathology, the disease is directly treated.

For each form of amyloidosis, targeted therapies are carried out.

The treatment of amyloidosis is complex and requires the involvement of a multidisciplinary team of specialists, but with early intervention it is possible to treat or contain the progression of symptoms.

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