Certificate Course in Amyloidosis : A case Based Discussion

What is amyloidosis?

Amyloidosis is a rare disease characterized by a buildup of abnormal amyloid deposits in the body. Amyloid deposits can build up in the heart, brain, kidneys, spleen and other parts of the body. A person may have amyloidosis in one organ or several.

What causes amyloidosis?

Amyloidosis may be secondary to a different health condition or can develop as a primary condition. Sometimes it is due to a mutation in a gene, but other times the cause of amyloidosis remains unknown.

Types of Amyloidosis

Light-chain (AL) amyloidosis can affect the kidneys, spleen, heart, and other organs. People with conditions such as multiple myeloma or a bone marrow illness called Wadenström’s macroglobulinemia are more likely to have AL amyloidosis.

AL starts in plasma cells within the bone marrow. Plasma cells create antibodies with both heavy chain and light chain proteins. If the plasma cells undergo abnormal changes, they produce excess light chain proteins that can end up in the bloodstream. These damaged protein bits can accumulate in the body’s tissues and damage vital organs such as the heart.

AA amyloidosis is caused by fragments of amyloid A protein, and affects the kidneys in about 80 percent of cases. It can complicate chronic diseases characterized by inflammation, such as rheumatoid arthritis (RA) or inflammatory bowel disease (IBS).

Transthyretin amyloidosis (ATTR) can be inherited from a family member (familial amyloidosis). People of African descent may be more likely to carry the gene that causes this kind of amyloidosis. Transthyretin is a protein that is also known as prealbumin. It is made in the liver. Excessive normal (wild-type ATTR) or mutant transthyretin can cause amyloid deposits.

There are other forms of amyloidosis, including APOA1, gelsolin, fibrinogen, and lysozyme.

Amyloidosis Symptoms

Signs and symptoms of amyloidosis include:

• Feeling very weak or tired
• Losing weight without trying
• Swelling in the belly, legs, ankles or feet
• Numbness, pain or tingling in hands or feet
• Skin that bruises easily
• Purple spots (purpura) or bruised-looking areas of skin around the eyes
• Bleeding more than usual after an injury
• Increased tongue size
• Shortness of breath

As amyloidosis progresses, the deposits of amyloid can harm the heart, liver, spleen, kidneys, digestive tract, brain or nerves.

Kidney problems can result in too much protein in the urine. If amyloid deposits block the filters in the kidney, you may experience swelling or even kidney failure.