source: Amyloidosis Support Groups

year: 2022

All the normal proteins in our body are biodegradable and recyclable. Amyloidosis is a disease in which abnormal proteins misfold and from fibrils that are resistant to being broken down. The amyloid protein fibrils deposit and accumulate in the body’s tissues. If amyloid builds up in the kidney, heart, liver, gastrointestinal tract, or nerves, it causes those organs to function poorly. The symptoms of amyloidosis are the result of the abnormal functioning of the organs involved. Typically, patients will have some of the following symptoms: unexplained weight loss, fatigue, shortness of breath, foamy urine, heart palpitations, swelling (in the abdomen, ankles and legs), easy bruising, carpal tunnel syndrome, lumbar spinal stenosis, or numbness and tingling in the hands and feet.

These are manifestations of damage to, or dysfunction of, the underlying organs from the amyloid protein. Treatments are designed either to stop the production of the amyloid proteins, or to stabilize them to prevent misfolding and fibril formation. There is also ongoing research to develop therapies with the potential to dissolve existing amyloid deposits. Left untreated, the systemic disease can be life-threatening. Therefore, early, and accurate diagnosis is the key to promoting good outcomes.

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