What Is Cardiac Amyloidosis?

Overview

Amyloidosis is a rare group of diseases characterized by the abnormal accumulation of amyloid proteins in various organs and tissues, including the heart.¹ The amyloid proteins are made up of misfolded proteins that clump together and form deposits in the organs, impairing their normal function. When these deposits accumulate in the heart, it can lead to cardiac amyloidosis, a type of heart disease that can cause heart failure and other serious complications. Cardiac amyloidosis can be challenging to diagnose, and treatment options vary depending on the type and severity of the condition.

Types of cardiac amyloidosis

There are several types of cardiac amyloidosis. First one to be addressed would be the AL amyloidosis immunoglobulin light chain. Also known as primary amyloidosis, it occurs when abnormal plasma cells in the bone marrow produce excessive amounts of immunoglobulin light chains, which are then deposited in various organs, including the heart. This is the most common type of cardiac amyloidosis.

ATTR amyloidosis amyloidosis and transthyretinis another type of cardiac amyloidosis that is caused by the accumulation of transthyretin protein in the heart. This type can be hereditary or acquired hence, it may sometimes be known as hereditary amyloidosis or transthyretin amyloidosis.

The third type of cardiac amyloidosis is the AA amyloidosis. This type of cardiac amyloidosis is caused by the accumulation of serum amyloid A protein in the heart. AA amyloidosis is usually associated with chronic inflammatory diseases such as rheumatoid arthritis or Crohn's disease, causing the deposition.

Causes of cardiac amyloidosis

The exact cause of cardiac amyloidosis is not fully understood, but it is believed to be related to the abnormal accumulation of amyloid proteins in the heart. The accumulation of these proteins can be caused by genetic mutations, aging, or other unknown factors.

Risk factors for cardiac amyloidosis include a family history of the condition, peole assigned male at birth (AMAB) male gender, age group over 60, and certain chronic inflammatory HERE diseases such as rheumatoid arthritis.

Signs and symptoms of cardiac amyloidosis

The signs and symptoms of cardiac amyloidosis can vary depending on the type and severity of the condition. Common symptoms include:

• Shortness of breath
• Fatigue
• Swelling in the legs and ankles
• Irregular heartbeat
• Chest pain
• Loss of appetite
• Weight loss
• Numbness or tingling in the hands and feet

In advanced cases, cardiac amyloidosis can cause heart failure, which can be life-threatening.

Management and treatment for cardiac amyloidosis

There is currently no cure for cardiac amyloidosis, but the management and treatment of the condition focus on controlling the symptoms; slowing down the progression of the disease; and improving the patient's quality of life.

Treatment options may vary depending on the type and severity of cardiac amyloidosis, For AL amyloidosis, chemotherapy and stem cell transplantation may be recommended to reduce the production of abnormal proteins.

 In ATTR amyloidosis, medications such as tafamidis and patisiran may be prescribed to stabilize the transthyretin protein and prevent its accumulation in the heart. For advanced cases of cardiac amyloidosis, heart transplant surgery may be considered as a last resort. However, due to the rarity of the condition, the eligibility and success rates of heart transplant surgery for cardiac amyloidosis may vary. 

In addition to medication, lifestyle changes such as maintaining a healthy diet, exercising regularly, and avoiding alcohol and smoking can also help manage cardiac amyloidosis. Diagnosis, treatment, and management of cardiac amyloidosis require a multidisciplinary approach involving cardiologists, hematologists, neurologists, and other specialists who are familiar with the condition.

Diagnosis of cardiac amyloidosis

The diagnosis of cardiac amyloidosis can be challenging because the symptoms are often nonspecific and can mimic other heart conditions. To diagnose cardiac amyloidosis, doctors may perform several tests, including:

• Blood tests: to measure the levels of specific proteins in the blood that are associated with amyloidosis
• Imaging tests: such as echocardiography, cardiac MRI, or nuclear imaging to visualize the heart and detect any abnormalities
• Biopsy: a tissue sample from the heart or other organs may be taken to confirm the presence of amyloid proteins

Risk factors

Several risk factors may increase the likelihood of developing cardiac amyloidosis. These include:

• Age: The risk of developing cardiac amyloidosis increases with age, especially after the age of 60
• Gender:  AMAB  are more likely to develop cardiac amyloidosis than .people assigned female at birth (AFAB)
• Family history: A family history of cardiac amyloidosis or a genetic mutation associated with the condition increases the risk of developing the disease
• Chronic inflammatory diseases: Chronic inflammatory diseases, such as rheumatoid arthritis or multiple myeloma, increase the risk of developing cardiac amyloidosis

Complications

Cardiac amyloidosis can cause several complications, including:

• Heart failure: the heart may become weak and unable to pump enough blood to meet the body's needs
• Arrhythmias: irregular heartbeats can lead to dizziness, fainting, or even sudden cardiac arrest
• Kidney failure: the accumulation of amyloid proteins in the kidneys can impair their function
• Peripheral neuropathy: nerve damage in the hands and feet can cause numbness, tingling, and pain

FAQs

How can I prevent cardiac amyloidosis

There is no known way to prevent cardiac amyloidosis, but maintaining a healthy lifestyle and managing chronic diseases such as rheumatoid arthritis can reduce the risk of developing the condition.

How common is cardiac amyloidosis

Cardiac amyloidosis is a rare condition that affects approximately 5-12 people per million each year. However, the prevalence may be higher among certain populations, such as those with familial amyloidosis.

When should I see a doctor

If you experience any symptoms of cardiac amyloidosis,1 such as shortness of breath, fatigue, or swelling in the legs and ankles, you should consult your doctor for further evaluation and diagnosis.

Summary

Cardiac amyloidosis is a rare but serious condition that can lead to heart failure and other complications. It is caused by the abnormal accumulation of amyloid proteins in the heart, and can be challenging to diagnose due to its nonspecific symptoms. Treatment options focus on managing the symptoms, slowing down the progression of the disease, and improving the patient's quality of life. If you suspect that you or a loved one may have cardiac amyloidosis, it is important to consult a doctor for proper evaluation and diagnosis.