Transthyretin-Related Cardiac Amyloidosis (ATTR-CM) is one of the rare inherited diseases that affect about 1 to 2% of the population over the age of 60.

In this disease, abnormal protein (amyloid) deposits build up, causing damage to heart tissue and leading to heart failure.

What causes ATTR-CM?

ATTR-CM is caused by gene mutations that produce faulty transthyretin protein in the liver. Normally, transthyretin helps transport thyroid hormone and vitamin A in the blood.

However, in ATTR-CM, the misfolded transthyretin proteins accumulate in the heart muscle, causing damage and eventual heart failure.

Who is at risk of ATTR-CM?

ATTR-CM is a rare disease that primarily affects individuals over the age of 60, but some people in their 40s and 50s are also susceptible.

The disease is caused by inherited gene mutations and is more common in certain populations, such as those of African, Northern European, and Irish descent.

How is ATTR-CM diagnosed?

Initially, patients may experience symptoms such as fatigue, shortness of breath, and swelling in the legs and feet.

A thorough physical examination by a healthcare provider and diagnostic tests, such as electrocardiograms, echocardiograms, and magnetic resonance imaging (MRI), can aid in the diagnosis of ATTR-CM. A biopsy of the heart tissue may also be necessary to confirm the diagnosis.

What are the treatment options for ATTR-CM?

Currently, there is no cure for ATTR-CM, and treatment options are limited. The primary goal of treatment is to alleviate symptoms, improve quality of life, and slow the progression of the disease.

Medications such as diuretics and beta-blockers can help manage symptoms, while heart transplant may be an option for some patients.

Are there any lifestyle adjustments to help manage ATTR-CM?

Patients with ATTR-CM may benefit from making lifestyle adjustments to help manage their symptoms. Staying active and participating in low-impact exercises such as walking or swimming can help improve heart health.

A heart-healthy diet consisting of lean protein, fruits, vegetables, and whole grains can also be beneficial. Limiting alcohol and avoiding smoking can also help improve heart health and reduce the risk of complications.

What is the prognosis for ATTR-CM?

The prognosis for ATTR-CM varies from person to person, depending on the severity of the disease and the effectiveness of treatment.

Some patients may experience a slow progression of symptoms, while others may experience a more rapid decline in heart function. Early diagnosis and treatment can help slow the progression of the disease and improve quality of life.

Conclusion

Transthyretin-Related Cardiac Amyloidosis is a rare, inherited disease that primarily affects older individuals.

It is caused by gene mutations that produce faulty transthyretin proteins in the liver, leading to the accumulation of amyloid deposits in the heart muscle. Early diagnosis and treatment can help slow the progression of the disease and improve quality of life.