Amyloidosis occurs when an abnormal protein known as amyloid builds up in the tissues and organs. Unlike other proteins, amyloid doesn’t add any support to the body, rather the buildup leads to organ failure. It affects the shape of the organs and how they function. Four major types of amyloidosis have been observed most commonly and the diagnosis and treatment procedures for each of these are based on the type of protein identified.
One of the crucial aspects of diagnosis in amyloidosis is that the symptoms are easily confused with other conditions. This causes misdiagnosis or delay in diagnosis which in turn affects the treatment outcomes. It is also important to get a precise diagnosis because the treatment differs greatly for different types of amyloidosis.
Once the physician suspects amyloidosis, she/he recommends specific tests. These include:
- Blood and urine tests
Laboratory testing of blood and urine samples helps to identify abnormal protein build-up.
- Thyroid and liver function tests
These may be recommended to identify protein build up in these areas.
- Tissue biopsy
Tissue from abdominal fat, bone marrow, mouth, rectum, organs such as kidney/liver are analyzed for amyloid protein deposits.
Images of organs help to gauge the extent of organ damage. This is done via ultrasound to determine the condition of various organs.
This procedure helps to determine heart enlargement and functioning.
- Genetic tests
These are recommended for familial or inherited types of amyloidosis.
There is no known cure for amyloidosis. However, doctors prescribe medications and courses of treatment to manage the symptoms and slow the progress of protein accumulation. When the type of amyloidosis is associated with another disease like cancer or rheumatoid arthritis, treatment plans focus on dealing with that aspect.
Treatment plans are also based on the types of amyloidosis that have been identified through tests. Generally, treatment is managed by a multidisciplinary team of experts such as:
Other healthcare professionals like nurses, physician assistants, social workers, dietitians, pharmacists, counselors, etc also work in tandem with the specialists to provide the kind of treatment an amyloidosis patient requires.
3. Methods of treatment
Since chemotherapy targets abnormal cell growth in the human body, it is used in amyloidosis too. This procedure is generally monitored by a hematologist or a medical oncologist.
- Secondary treatments
These help to manage underlying symptoms like rheumatoid arthritis and irritable bowel syndrome.
- Targeted therapies
These therapies are prescribed once the specific protein, gene or environment is identified. It can limit the damage to healthy cells and makes use of immunomodulatory drugs, monoclonal antibodies, and proteasome inhibitors.
Heart, liver and kidney transplantation surgery are effective in certain hereditary types of amyloidosis. However, it may not be suitable for all patients.
- Stem cell/Bone marrow transplantation
These are recommended for certain conditions where there is some degree of normal organ function.
Treatment of all kinds has its side-effects and palliative care with support for social, emotional and physical needs is mandatory following them.