Amyloidosis

Amyloidosis is a rare condition that occurs when amyloid builds up in your body’s organs. Amyloid is an abnormal protein that is formed in your bone marrow. Amyloid can accumulate in any of your body’s tissues or organs. Though the heart, kidney,s liver, digestive tract, spleen, and nervous system are the organs most commonly affected by amyloidosis, the condition can affect any organ in your body. Severe amyloidosis can result in organ failure. Though there is no cure for the condition, treatment can aid in symptom management and limit the creation of amyloid in the body.

Symptoms

You may not have any signs or symptoms of amyloidosis until the condition is in an advanced stage. The type of symptoms you experience will depend on which organs in your body are affected. Some symptoms of amyloidosis include swelling in your legs and ankles, diarrhea, possibly with blood in it, constipation, irregular heartbeat, an enlarged tongue, difficulty swallowing, and unintentional weight loss. Additionally, you may experience pain, tingling, or numbness in your hands or feet, severe weakness and fatigue, shortness of breath, and skin changes, such as purplish patches around your eyes, skin thickening, and easy bruising if you have amyloidosis.

Causes

Amyloidosis is caused by a build up of amyloid, an abnormal protein created by your bone marrow, in your organs. The specific cause of your disease will depend on what type of the amyloidosis you have.

AL Amyloidosis: Immunoglobulin light chain amyloidosis, previously known as primary amyloidosis, is the most common type of amyloidosis. It can affect your kidneys, skin, heart, nerves, and liver. This type of amyloidosis occurs when your bone marrow creates abnormal antibodies that your body can’t break down. Instead, the antibodies are deposited in your organs as amyloid.

Hereditary Amyloidosis: Heredity amyloidosis is an inherited condition that affects the heart, nerves, liver, and kidneys. There are many gene abnormalities present at birth that are linked to this type of amyloidosis.

AA Amyloidosis: AA amyloidosis, previously known as secondary amyloidosis, usually affects your kidneys. However, it can also affect your heart, digestive tract, and liver. This type of amyloidosis occurs in conjunction with chronic inflammatory or infectious conditions, such as inflammatory bowel disease or rheumatoid arthritis.

Dialysis-Related Amyloidosis: This type of amyloidosis typically affects individuals who are on long-term dialysis. The condition develops when proteins in your blood are deposited in your joints and tendons. This results in stiffness, pain, and fluid in your joints.

Diagnosis

According to Mayo Clinic, amyloidosis is often not considered as a diagnosis because the signs and symptoms of the condition can mimic those of more common conditions. Getting a proper diagnosis as early as possible is important to help prevent future organ damage.

If you have signs and symptoms of amyloidosis, your doctor may do blood tests to look for abnormal proteins in your body that could indicate amyloidosis. A biopsy can help determine the type of amyloid being deposited into your tissues and organs. A biopsy may be done on your bone marrow, abdominal fat, or an organ, such as your kidney or liver. Finally imaging tests of your organs can help your doctor determine how much damage the disease has done to your organs.

Treatment

There is no cure for amyloidosis. However, treatment can help you manage symptoms and limit the creation of amyloid in your body. The type of treatment you receive will depend on the type of amyloidosis you have.

AL Amyloidosis: AL amyloidosis is treated with many of the same chemotherapy medications used to treat multiple myeloma. These medications are used to inhibit the growth of the abnormal cells that create amyloid in your body.

Hereditary Amyloidosis: The protein that causes this form of the condition is produced in the liver. Liver transplantation may be an option for those who are suffering with this type of amyloidosis.

AA Amyloidosis: Treatment for AA amyloidosis targets the underlying condition causing the disease. For instance, anti-inflammatory medication may be prescribed if you have rheumatoid arthritis.

Dialysis-Related Amyloidosis: Changing your mode of dialysis or a kidney transplant are the treatment options for this type of amyloidosis.

Amyloidosis is a rare condition in which the abnormal protein, amyloid, is deposited in your organs. Though there is no cure for the condition, treatment can help you manage your symptoms and prevent further damage to your organs.