Cardiac Amyloidosis: Symptoms, Causes, Treatment

What are the symptoms of cardiac amyloidosis?

Cardiac amyloidosis is a condition where abnormal proteins called amyloids build up in the heart tissue, affecting its structure and function. Symptoms can vary depending on the severity of the condition and the extent of heart involvement. Common symptoms include:

1. Shortness of breath: This can occur during physical activity or even at rest due to the heart’s reduced ability to pump blood effectively.
2. Fatigue: Feeling unusually tired or weak, which can be persistent and not relieved by rest.
3. Swelling: Often in the legs and ankles (edema) or the abdomen (ascites) due to fluid buildup.
4. Palpitations: Feeling a rapid or irregular heartbeat.
5. Dizziness or lightheadedness: Especially when standing up quickly, due to decreased blood flow.
6. Chest pain or pressure: This can vary from mild discomfort to severe pain, often resembling angina.
7. Other symptoms: These can include weight loss, difficulty swallowing, changes in skin color (such as a waxy appearance), and enlarged tongue.

Since these symptoms can be indicative of various heart and health conditions, it’s important to consult a healthcare professional for an accurate diagnosis and appropriate management.

What are the causes of cardiac amyloidosis?

Cardiac amyloidosis is typically caused by the buildup of abnormal proteins called amyloids in the heart tissue. These amyloid proteins are usually produced in excess by abnormal plasma cells in the bone marrow or liver. There are several types of amyloidosis, and the specific type depends on the protein involved. The two most common types affecting the heart are:

1. AL amyloidosis (immunoglobulin light chain amyloidosis): This type occurs when the bone marrow produces abnormal antibodies, which then form amyloid proteins that deposit in tissues, including the heart.
2. ATTR amyloidosis (transthyretin amyloidosis): This type occurs when the liver produces abnormal transthyretin proteins, which can also form amyloid deposits in the heart and other organs.

Less commonly, other proteins can cause amyloidosis in the heart and other organs. The exact cause of amyloidosis is often unknown, although it can be associated with other conditions such as multiple myeloma (in the case of AL amyloidosis) or hereditary mutations (in the case of ATTR amyloidosis).

What is the treatment for cardiac amyloidosis?

Cardiac amyloidosis is a condition where amyloid proteins deposit in the heart, leading to heart failure and other complications. The treatment for cardiac amyloidosis depends on the underlying cause of the disease, the extent of the disease, and the symptoms. Here are some common treatments used:

1. Alkylating agents: Medications such as melphalan, busulfan, and cyclophosphamide are used to slow down the production of amyloid proteins in the body.
2. Steroids: Corticosteroids, such as prednisone, may be used to reduce inflammation and swelling in the heart.
3. Colchicine: This medication is used to reduce inflammation and slow down the production of amyloid proteins.
4. Thalidomide: This medication is used to reduce inflammation and slow down the production of amyloid proteins.
5. Heart failure medications: Medications such as diuretics, ACE inhibitors, and beta blockers may be used to manage symptoms of heart failure.
6. Cardiac transplantation: In some cases, cardiac transplantation may be considered for patients with severe cardiac amyloidosis who are not responsive to other treatments.
7. Liver transplantation: In some cases, liver transplantation may be considered for patients with familial amyloid polyneuropathy (FAP) who have a mutation in the transthyretin (TTR) gene.
8. Intravenous immunoglobulin (IVIG): IVIG may be used to reduce inflammation and slow down the production of amyloid proteins.
9. Immunotherapy: Immunotherapy, such as monoclonal antibodies, may be used to target specific types of amyloid proteins.
10. Symptomatic treatment: Medications such as pain relievers, antacids, and antihistamines may be used to manage symptoms such as pain, nausea, and diarrhea.

In addition to these treatments, lifestyle changes such as:

• Healthy diet: Eating a healthy diet rich in fruits, vegetables, and whole grains can help manage symptoms.
• Regular exercise: Regular exercise can help improve cardiovascular function and reduce symptoms.
• Weight management: Maintaining a healthy weight can help reduce symptoms.

It’s important to note that there is no cure for cardiac amyloidosis, and treatment is focused on managing symptoms and slowing down the progression of the disease. Patients with cardiac amyloidosis should work closely with their healthcare provider to develop a treatment plan that is tailored to their individual needs.

What is the life expectancy for someone with cardiac amyloidosis?

The life expectancy for someone with cardiac amyloidosis varies depending on several factors, including the underlying cause of the disease, the severity of the disease, and the effectiveness of treatment.

In general, cardiac amyloidosis is a progressive disease, and the life expectancy is typically shorter than for people without the disease. Here are some general estimates:

• Familial amyloid polyneuropathy (FAP): The median life expectancy for people with FAP is around 50-60 years, with a range of 20-80 years.
• Alzheimer-type amyloidosis: The median life expectancy for people with Alzheimer-type amyloidosis is around 5-10 years, with a range of 1-20 years.
• Wild-type transthyretin (TTR) amyloidosis: The median life expectancy for people with wild-type TTR amyloidosis is around 10-20 years, with a range of 5-40 years.
• Reactive amyloidosis: The median life expectancy for people with reactive amyloidosis is around 5-10 years, with a range of 1-20 years.

However, it’s important to note that these estimates are based on averages and may not reflect the actual life expectancy for an individual. Factors such as:

• Age at diagnosis
• Severity of symptoms
• Effectiveness of treatment
• Presence of other underlying medical conditions

can all impact the actual life expectancy.

It’s also important to note that cardiac amyloidosis is a chronic disease, and while treatment can help manage symptoms and slow down the progression of the disease, it is not a cure. Patients with cardiac amyloidosis will need to work closely with their healthcare provider to manage their condition and monitor their symptoms over time.

In addition to medical treatment, patients with cardiac amyloidosis may also benefit from lifestyle modifications such as:

• Eating a healthy diet
• Getting regular exercise
• Managing stress
• Getting enough sleep
• Avoiding smoking and other harmful substances

By working closely with their healthcare provider and making lifestyle changes, patients with cardiac amyloidosis can improve their quality of life and potentially extend their life expectancy.