New Delhi: The symptoms of heart failure, which include breathlessness, tiredness, and fatigue, along with foot or leg swelling, are extremely vague in most cases and can signal a variety of illnesses. While a definitive diagnosis may take time, experts believe a few other signs, like premature ageing, can be due to transthyretin amyloid cardiomyopathy or ATTR-CM.
ATTR-CM is a rare condition where a protein known as transthyretin misfolds and forms deposits that cause your heart muscle to become thick and stiff, impairing its ability to pump blood. Since most of its symptoms – which include breathlessness and fatigue, often mimic normal ageing or other common heart diseases, ATTR-CM is frequently misdiagnosed.
According to data, ATTR-CM is an underlying cause in nearly 13 per cent of patients who are hospitalized with heart failure, 16 per cent of those with aortic stenosis, and 40 per cent of those in high-risk heart failure categories.
What does ATTR-CM feel like?
According to doctors, most of the symptoms of ATTR-CM can be shared with many other conditions, the common symptoms of which include:
- Breathlessness
- Fatigue and tiredness
- Chest pressure or pain in the chest
- Chronic coughing or wheezing
- Swelling of the legs or feet
- Stomach bloating and indigestion
- Confusion
- Increased heart rate
- Palpitations or an irregular heart rhythm
Symptoms that do not seem to be related to heart function are a red flag for ATTR-CM. These symptoms are caused by a build-up of deposits of transthyretin in areas outside of the heart, a version of ATTR called ATTR-PN, also known as polyneuropathy, that affects the nervous system.
ATTR-PN symptoms can appear alongside cardiac symptoms in people with ATTR-CM, and include things like:
- Carpal tunnel syndrome
- Numbness or tingling in the hands and feet
- Orthostatic hypotension
- Spinal stenosis
How would you know if you have ATTR-CM?
According to experts, the ATTR-CM is based on your symptoms, but they cannot diagnose it without testing for it. The symptoms of the condition are pretty similar to those of other types of heart failure, and so an echocardiogram or electrocardiogram can only diagnose it.
To diagnose ATTR-CM, your doctor will have to perform tests like:
- Cardiac magnetic resonance imaging or MRI
- Genetic testing
- Nuclear medicine scans of the heart
- A biopsy of the heart tissue
Only advanced testing reveals whether your heart failure is the result of ATTR-CM. If you have had amyloid disease in your family, you must talk to your healthcare provider about testing.
How is ATTR-CM treated?
ATTR-CM is treated with medications along with a few lifestyle changes that can manage your heart health. However, according to experts, a successful treatment also addresses the build-up of transthyretin proteins as well.
Several new treatments are available, and additional options are in various phases of development. These treatments help to:
- Reduce the formation of transthyretin proteins
- Stabilize circulating proteins to prevent them from being deposited into heart tissue
While according to doctors, the treatments cannot stop or reverse damage, they can slow the progression of the disease. Studies also say that gene editing and antibody therapy are beneficial as well. In the late stages, doctors usually go for heart transplantation.
