- by Aegis Medicare
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- Jan 08 2018
What is Amyloidosis?
It is a rare disease that occurs because of abnormal protein deposits in body tissues and organs and the proteins are called amyloid. There are over 30 different amyloid proteins. Each amyloid protein is arranged in a structure called a fibril. Fibril is low molecular weight protein that is derived from precursor proteins and they can float in the plasma of blood and deposit into tissues of the body. It is an inherited and referred to as familial amyloidosis.it can cause nerve damage referred to as transthyretin familial amyloid polyneuropathy or TTR-FAP.
Different type of proteins can lead to the formation of amyloid deposits, but only few can lead to significant health problems. It may collect throughout your body or in just one area.
Types of Amyloidosis
Primary (systemic AL) amyloidosis: Its cause is not known but it has been seen in people with a blood cancer called multiple myeloma. It is the most common type and it affects the entire body. The most commonly affected parts are kidney, heart, liver, intestines, and certain nerves. AL stands for “amyloid light chains”, it is a type of protein responsible for this type of amyloidosis.
Secondary (systemic AA) amyloidosis: This is caused due to another chronic inflammatory disease, such as lupus, rheumatoid arthritis, tuberculosis, inflammatory bowel disease, and certain cancers. It commonly affects the spleen, kidneys, liver, adrenal gland, and lymph nodes. AA stands for amyloid type A protein.
Dialysis-related amyloidosis (DRA): This is more common in older adults and people who have been on dialysis for more than 5 years. This is caused by deposits of beta-2 microglobulin that build up in the blood.
Hereditary amyloidosis: It is very rare that is passed down through families. It is caused by a TTR protein, which is made in the liver.
Senile systemic amyloidosis (SSA): It is caused by deposits of normal TTR in the heart and other tissues.
Organ-specific amyloidosis: It is caused by deposits of amyloid protein in single organs, including the skin.
Symptoms vary greatly depending on where the amyloid protein is collecting in the body. General symptoms of amyloidosis may include:
- Changes in skin colour
- Clay-colored stools
- Feeling of fullness
- Joint pain
- Shortness of breath
- Swelling of the tongue
- Tingling and numbness in legs and feet
- Weak hand grip
- Weight loss
A thorough physical exam and medical history will help a doctor to diagnose amyloidosis. There is no blood test to detect amyloidosis. Electrophoresis or free light chain assays may reveal early evidence of amyloid proteins.
A biopsy is needed to confirm a diagnosis of amyloidosis and determine the specific type of protein involved in the disease.
There is no cure for amyloidosis. A doctor will prescribe treatments to suppress the development of the amyloid-forming protein, and to manage symptoms. The liver transplant may stop the disease in those with hereditary amyloidosis. Secondary (AA) amyloidosis is treated by controlling the underlying disorder and with powerful anti-inflammatory medicines called steroids, which fight inflammation.
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