Amyloidosis: 10 Terms to Know

Amyloidosis is a fairly rare group of diseases characterized by the presence of excessive amounts of the protein amyloid. Amyloidosis is a long term disease, and can be frightening and difficult to manage. Here is a look at ten terms to help you get informed about amyloidosis.

1. Amyloid: Amyloid is a protein that is produced by the bone marrow. Sometimes when the protein is produced it is abnormal, or misfolded. This protein builds up in the nerves, organs, and tissues of the body, where it damages these structures and gets in the way of proper functioning. There are more than six different causes of abnormal amyloids. 
2. Neuropathy: One of the symptoms that tends to be present in most types of amyloidosis is neuropathy. There are several types of neuropathy as well, but each of them are characterized by damage to the nerves and may cause weakness, a tingling sensation, numbness, or difficulties with the autonomic functions of the nervous system.
3. Cardiomyopathy: When the abnormal amyloid protein builds up in the heart muscles, it can cause a series of cardiac-related issues, including cardiomyopathy. Wild-type amyloidosis is particularly noted for its tendency to cause damage to the hearts of older men. Cardiomyopathy itself is an abnormality of the heart in which it becomes more difficult to send blood around the body, and it may eventually result in heart failure.
4. Edema: Another more common symptom of amyloidosis is edema. The legs and ankles begin to swell; this may be because of amyloid buildup in the joints and surrounding tissue. It can also, more alarmingly, be a sign of more serious issues, like damage to the kidneys that prevents them from being able to get rid of toxins and excess liquid properly.
5. Carpal Tunnel Syndrome: Carpal tunnel syndrome can also be a sign of amyloidosis. Again, the abnormal amyloid begins to build up in the joints, particularly the wrist. The excess deposits put pressure on the nerves and other tissues present, leading to swelling, pain, and a tingling sensation or numbness. 
6. Freelite Assay: A combination of blood and urine tests are performed to figure out not only if amyloidosis is present, but also the particular amyloid protein mutation present to create the best course of treatment. The Freelite Assay can help diagnose AL amyloidosis by detecting abnormal immunoglobulin produced by plasma cells from bone marrow. However, according to the Amyloidosis Foundation, in AA amyloidosis “the most common diagnostic test is staining the tissue sample with antibodies that are specific for the major amyloid protein diseases.”
7. Biopsy: Following a physical exam, medical history, and lab tests, a biopsy may be necessary. The symptoms and suspected form of amyloidosis present may play a large role in deciding exactly which parts to take the biopsy tissue from. Regardless of location, a biopsy needle is used to remove a small amount of tissue which is sent to a pathologist to look for abnormalities that may indicate not only amyloidosis, but also how extensive the organ damage may be.
8. Supportive treatment: Since researchers are still in the process of discovering a cure, one of the main aspects of managing amyloidosis of any sort is supportive treatment. This means helping the patient deal with symptoms, which can be extensive when organ damage becomes extreme. Supportive treatment might involve managing the underlying disease in the case of AA amyloidosis, or it might simply be improving the signs of amyloidosis, like kidney damage.
9. Source treatment: Source treatment is the other aspect of managing amyloidosis. Again, despite the lack of definitive “cure” available, there are alternative methods that can help slow down or temporarily halt the production of abnormal proteins by managing the disease at the “source” of the problem, rather than just the symptoms presented. 
10. Peripheral blood stem cell transplant: Each type of amyloidosis may require a different source treatment, since each type varies in cause. In AL amyloidosis, which is caused by an abnormality in the bone marrow’s production, peripheral blood stem cell transplants can be helpful when the disease is diagnosed early. Before undergoing chemotherapy, stem cells are removed from the patient and stored during treatment. After, they are reinjected into the patient so that there are healthy stem cells in the body to produce.