Cardiac Amyloidosis is a clinical disorder characterized by the accumulation of extracellular or insoluble abnormal Amyloid fibrils in the cell that alters the normal function of tissues. These disease symptoms usually depend on which organ is damaged.
Swelling, tiredness, weakness, shortness of breath, fainting, and pain in the hands or feet may also occur. Depending on the type of Amyloidosis, these drugs may be chemotherapy or stem-cell transplantation.
What is Cardiac Amyloidosis?
Cardiac Amyloidosis occurs when abnormal proteins called amyloid build up in tissues and organs. Due to this, the process of tissue shape and function starts deteriorating. This disease is a serious health problem that can cause damage to body parts.
Types of Amyloidosis
Light chain amyloidosis
(AL) is one of the most common types of disease. The Amyloid proteins produced by the tissue in this state are known as light chains. Amyloidosis is a disease of plasma cells. Plasma cells are a type of white blood cell responsible for producing immunoglobulins or antibodies, a type of protein that fights infection.
In this disease, light chain proteins are denatured and overproduced. They can build up in tissues and damage one or more organs. The heart, kidneys, nerves, and gastrointestinal tract are most commonly damaged. This is generally happening because AL amyloidosis is associated with the overproduction of plasma cell proteins.
Autoimmune (AA) amyloidosis
Amyloidosis AA is also known as “secondary amyloidosis” or “inflammatory amyloidosis.” The amyloid protein formed in the tissue in this state is called a protein. This disease is associated with several chronic diseases, such as
- Diabetes
- Tuberculosis
- Rheumatoid arthritis
- Inflammatory bowel disease constipation.
It is also associated with aging. This disease can be affecting dangerously in our internal organs, such as the spleen,
- Liver
- Kidneys
- Adrenal glands
- Lymph nodes
Lymph nodes are similar to small bean-shaped organs that fight infection.
Hereditary or familial Amyloidosis
Such Amyloidosis is rare. This generation continues to live in the family of the horror generation. Proteins produced in this disease can cause heart problems.
About 4,000 people in the United States have this disease. The disease usually develops between 55 and 65, but AL amyloidosis can also develop in people younger than 20.
This AL disease is rare, but detection is often delayed. Survival of AL amyloidosis depends on a variety of factors.
Amyloidosis affects the body.
Amyloid fibrils are protein polymers consisting of identical monomer units (homopolymers). Functional Amyloidosis plays a beneficial role in various physiological processes. Pathogens result from Amyloidosis—most of which are aggregates of different types of misfolded proteins in tissues.
Causes of Cardiac Amyloidosis
This disease occurs due to protein misfolding. Hereditary Amyloidosis causes the body to make abnormal proteins. The accumulation of abnormal or misfolded proteins affects the functioning of the organs. Once Amyloid deposits begin, they continue to build up in one place. The heart, kidneys, nervous system, and GI tract are most commonly damaged.
What are the risk factors for Amyloidosis?
Anyone can develop this disease. Factors that increase the risk of this can be:
Age – Most AL amyloidosis is diagnosed mostly in people between 60 and 70.
Gender – About 70 percent of people with AL amyloidosis are male.
Other diseases – Having a chronic infection or inflammatory disease increases the risk of this disease.
Family history – Some types of this disease are generational fears.
Renal dialysis – Dialysis does not always remove large amounts of protein from the blood. If you are on dialysis, abnormal proteins can build up in the blood and eventually get deposited in the tissues. This condition is less common in modern dialysis techniques.
Symptoms of Cardiac Amyloidosis
The organ or function of the protein involved usually determines the symptoms of the disease.
Kidneys:
The disease that builds up in the kidneys will reduce the kidney’s ability to filter and break down proteins. Because of this, the urine contains large amounts of protein, which results in “foamy” urine. The kidneys also stop working. Decrease urine output and changes in creatinine level clearance test A blood test to measure kidney function may be done.
Liver:
This disease can affect the liver’s ability to enlarge and function normally. This can cause abdominal pain, bloating, and changes in liver enzymes that blood tests can detect.
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Heart:
In this disease, the heart can cause irregular heartbeat, known as arrhythmia. Due to this, the size of the heart increases, and there is a malfunction in the bad heart. This causes irregular heartbeat, shortness of breath, or chest pain.
Gastrointestinal tract:
Amyloidosis of the gastrointestinal tract can cause problems with digestion and absorption of nutrients, diarrhea or constipation, bleeding, blockage, and a thick tongue called macroglossia. It can also cause problems with the esophagus, including gastroesophageal reflux disease (GERD).
Thyroid gland:
This anti-cancerous inflammation in this disease of the thyroid gland can cause goiters.
Lungs:
Amyloidosis of the lungs can cause breathing problems, leading to shortness of breath.
Nervous system:
The Disorder of the peripheral nervous system is one of the most very common neurological complications of Amyloidosis. Patients experience vomiting, diarrhea, constipation, sweating, or sexual problems. Some visual disorders generally occur, like Tingling or weakness in the arms or legs may develop. This condition is known as peripheral neuropathy. Carpal tunnel syndrome may also occur.
Other common symptoms of Amyloidosis include:
Fatigue results in a feeling of extreme tiredness. This is a common problem for people with Amyloidosis. Such patients feel tired. Often even small tasks, such as walking around the room, can take a long time.
- Weight loss
- Anemia, a low level of red blood cells
- Weak hand grip that can result from carpal tunnel syndrome
- Skin changes such as rashes around the eyes
- Clay-colored feces
- Joint pain
Diagnosis and test of Cardiac Amyloidosis
The following methods can recognize Amyloidosis:
Laboratory Test:
The doctor may take samples of the patient’s blood and urine to know more about the patient’s illness and general health.
Bone marrow and biopsy:
These 2 procedures are similar, and the bone marrow is often examined simultaneously. A common site for a bone marrow biopsy is the posterior iliac crest, a part of the pelvic bone located in the back. The bone marrow is the spongy tissue present inside our bones. It consists of and presents both a solid and a liquid part. A sample of bone marrow fluid is taken with a needle. A small amount of solid tissue is taken with a needle in a biopsy. A pathologist analyzes this sample.
Biopsy:
A small amount of tissue is taken from the skin for examination under a microscope. Then a pathologist analyzes the sample. When Amyloidosis is suspected, tissue samples are often taken from abdominal fat or bone marrow. Samples may also be taken from the
- Liver
- Veins
- Heart
- Kidney
- Anus
The patient may need to stay in the hospital for these tests.
Ultrasound:
Ultrasound uses sound waves to create a picture of our internal organs. Abdominal ultrasounds can be used to view organs.
Heart Evaluation:
Electrocardiogram (EKG or ECG) and echocardiogram evaluate the heart, look for abnormalities in the heart and check the movement of the heart walls.
Amyloidosis treatment
There are several treatments for Amyloidosis.
Medicines used to treat Amyloidosis:
These medications are used to control problems associated with Amyloidosis. Steroids work well and are usually taken along with other medications.
Patisiran (Onpatro)
Is a drug used to treat hereditary polyneuropathy in adults? It is taken intravenously every 3 weeks.
Immunomodulatory drugs
This class of drugs includes lenalidomide, pomalidomide, and thalidomide.
Monoclonal antibody
Monoclonal antibodies are a type of targeted therapy. It recognizes certain proteins in abnormal cells and does not affect cells lacking this protein. The second type of monoclonal antibody targets Amyloid directly.
Proteasome inhibitors
This class of drugs targets specific enzymes called the Proteasome that digest proteins in cells.
Chemotherapy
Chemotherapy uses drugs to destroy abnormal cells. It is commonly used to treat cancer. Chemotherapy is also helpful for other conditions, including Amyloidosis. A hematologist or oncologist does chemotherapy.
During the treatment of Amyloidosis, chemotherapy is used to kill abnormal cells in the blood. Some common types of chemotherapy used to treat Amyloidosis are cyclophosphamide (Cytoxan, Neosar) and melphalan (Alkeran) in combination with dexamethasone (several brands) and prednisone (several brands).
Targeted therapy
Is a therapy that targets specific genes, proteins, or tissues that contribute to the development of Amyloidosis? This type of treatment blocks the growth and proliferation of abnormal cells, limiting damage to healthy cells. This Targeted therapy treatment for curing amyloidosis disease also includes anti-antigenic therapy, monoclonal antibodies, and Proteasome inhibitors.
Surgery
Surgery used to treat Amyloidosis may include organ transplants. Liver transplantation is effective in treating some types of hereditary Amyloidosis. Kidney and heart transplants can also help.
Lifestyle Tips
To be in good health, people being treated for Amyloidosis are encouraged to do the following:
- Maintain a healthy weight
- Do not smoke
- Eat a balanced diet
- Have periodic screening tests
Amyloidosis and pregnancy
Amyloidosis is not common in pregnancy, yet Amyloidosis will also complicate pregnancy because of the underlying disease and can lead to catastrophic congenital death.
Some common problems occur with Amyloidosis.
Kidneys
Amyloid can damage the kidneys’ filtering system, causing the protein to leak from the blood into the urine, which can eventually lead to kidney failure.
Heart
Amyloid reduces the ability of the heart to fill with blood between heartbeats. With each beat, less blood is pumped, and you may experience shortness of breath.
Nervous system
Pain, swelling, or lack of tingling in the fingers or a burning feeling in the toes or soles of the feet. If Amyloid affects the nerves that control the intestines, constipation and diarrhea can be experienced.
If the condition affects the nerves that control blood pressure, dizziness may be experienced upon standing up quickly.
