The Mayo Clinic defines amyloidosis as a complex disease that occurs when substances called amyloid proteins build up in the organs. Amyloid is an abnormal protein produced by bone marrow cells that have the ability to be deposited in any tissue or organ. Amyloidosis is a rare condition. Cure Research Group indicates that roughly 3,000 people in the United States are diagnosed with amyloidosis every year, with 60 percent of the cases occurring in men. There are three forms of amyloidosis: primary, secondary and hereditary.
Primary Amyloidosis
Primary amyloidosis occurs most commonly. This type can affect most organs in the body. Primary amyloidosis is sometimes associated with multiple myeloma, a form of bone marrow cancer. While physicians know the disease originates at the bone marrow, the exact reason why this happens is still unknown. Bone marrow produces red blood cells, white blood cells and platelets. Bone marrow also makes proteins known as antibodies that protect the body from infections. After antibodies serve their function, they are broken down and recycled to create more antibodies. When amyloidosis occurs, cells in the bone marrow produce antibodies that can't be broken down. The antibodies build up in the bloodstream. As they leave the bloodstream, they deposit into the tissues as amyloid, interfering with normal organ function.
Secondary and Hereditary Amyloidosis
Secondary amyloidosis occurs when a person is already suffering from a chronic infection or inflammatory disease. This type of amyloidosis primarily affects the kidneys, spleen, liver and lymph nodes, though it may occasionally affect other organs. Hereditary amyloidosis is genetic and often affects the liver, nerves, heart and kidneys.
Symptoms
The signs and symptoms of amyloidosis vary dependent upon which organs are affected. Symptoms may include swelling of your ankles and legs, weakness, significant weight loss, shortness of breath, numbness or tingling in the hands or feet, diarrhea or constipation, feeling full quickly, purplish patches around the eyes, irregular heartbeat, difficulty swallowing and protein in the urine.
Diagnosis
Testing for amyloidosis is also dependent upon the organs infected. Testing may involve abdominal ultrasound to look for a swollen liver or spleen, an ECG to look for heart arrhythmias, an echocardiogram to look for poor heart contractions, or kidney function studies to look for signs that the kidneys may be failing.
Primary Amyloidosis Treatment
The treatment of primary amyloidosis includes medications such as melphalan, a chemotherapy agent, and corticosteroids, such as dexamethasone, for anti-inflammatory purposes. According to the Mayo Clinic, there are studies in progress to find out whether the medications used to treat the cancer multiple myeloma may be of some use in the treatment of amyloidosis. These medications include bortezomib, thalidomide and a derivative of thalidomide known as lenalidomide. Often, physicians will use stem cell transplantation to attempt to replace diseased or damaged marrow. The cells can be the patient's own or donor cells.
Secondary and Hereditary Amyloidosis Treatment
For the treatment of secondary amyloidosis, physicians will treat the underlying cause of the amyloidosis, such as treating the tuberculosis, which may allow the amyloidosis of the lungs to dissipate on its own. In hereditary amyloidosis, physicians attempt to treat with liver transplantation. Hereditary amyloidosis is created in the liver and replacing the malfunctioning liver with a clean one can stop the illness at the source.
