In amyloidosisis, an abnormal protein called amyloid builds up in tissues and organs. The signs and symptoms of amyloidosis vary among patients because the build-up may occur in the tongue, intestines, muscles, joints, nerves, skin, ligaments, heart, liver, spleen, or kidneys. A form of amyloid, which is associated with Alzheimer's disease, may deposit in the brain.
The diagnosis of amyloidosis depends upon the use blood or urine tests to identify signs of amyloid protein and a tissue biopsy to confirm the diagnosis.
There are several types of amyloidosis. Primary amyloidosis appears to be associated with a small plasma cell clone that gives rise to amyloid light chains, which deposit in many tissues and organs in the body. Secondary amyloidosis is associated with chronic inflammation, such as is seen in rheumatoid arthritis or other autoimmune disorders. There is also a hereditary form of amyloidosis.
Amyloidosis is a rare disease. It is estimated to occur in 1 case per 100,000 person-years.
Amyloidosis is frequently associated with chromosome anomalies. The anomalies that have been described in association with amyloidosis are numerous and varied. As a result, no single chromosome anomaly is characteristic for this condition.
One study did find an extra chromosome X (trisomy X) in 13% of women and 54% of men with systemic amyloidosis in their study population. We were not able to find a study which investigated the prevalence of chromosome 16 anomalies. One of the more common chromosome anomalies associated with systemic amyloidosis is a loss of a copy of chromosome 18 (i.e., chromosome 18 monosomy). In one study this anomaly was identified in 72% of participants.
Treatment may include chemotherapy with melphalan (“Alkeran”), stem cell transplantation (SCT), or bortezomib (“Velcade”), which is a pro
Disability Benefits For Amyloidosis
Amyloidosis may affect many different parts of the body. Some patients have only a mild form of the disease. Other patients can be severely affected. Musculoskeletal symptoms, including joint and muscle pain, widespread arthritis, carpal tunnel syndrome, and neuropathy, may cause disabling functional restrictions. Kidney disease with amyloidosis may cause varying degrees of chronic kidney failure. The heart may be affected in amyloidosis, which may lead to congestive heart failure and cardiac arrhythmias. Involvement of the intestines may cause malabsorption syndromes. When treatment is required, the use of toxic chemotherapy may result in side effects and complications that significantly contribute to the disability caused by the disease itself.
Depending on the stage of the disease, amyloidosis may provide a basis to obtain long-term disability benefits under both the Social Security Act (SSDI) and under an employer-based plan (ERISA).