Although there currently is no cure for amyloidosis, treatment is given to improve symptoms and extend life. Treatment can limit further production of amyloid proteins and, in some instances, promote the breakdown of amyloid proteins in affected organs. The type of treatment required varies depending on the type of amyloidosis and the symptoms that are present.
With Secondary Amyloidosis , the main goal of therapy is to treat the underlying condition -- for example, taking an anti-inflammatory medication for rheumatoid arthritis or antibiotics for an infection.
In Hereditary Amyloidosis , liver transplantation has been the most effective therapy. The new liver does not produce the abnormal amyloid proteins and consequently the disease improves.
For Primary Amyloidosis , treatment includes chemotherapy. Until recently, low-dose chemotherapy had been the treatment of choice. Low-dose oral chemotherapy, usually melphalan (also called Alkeran), has improved the median lifespan for patients with amyloidosis to approximately one and a half years.
Because amyloidosis is such a difficult disease to treat and survival is limited, researchers have begun to investigate the use of high-dose chemotherapy with stem cell transplantation as a means of prolonging survival. The initial results with stem cell transplantation are encouraging.
A complete history and physical examination is essential for determining if a person may have amyloidosis. Blood, urine and bone marrow tests also must be performed. Blood or urine tests can detect the amyloid proteins, but only bone marrow tests or other small samples of tissue can positively establish the diagnosis of amyloidosis.
A small tissue sample (biopsy) will often be taken from the rectum, abdominal fat or bone marrow to confirm the diagnosis of amyloidosis. These biopsies are relatively minor procedures done in an outpatient clinic with a local anesthetic (numbing medication). Occasionally, samples need to be taken from damaged organs such as the liver, GI track, heart or kidney. The type of biopsy procedure required will vary from patient to patient.
Signs And Symptoms
Amyloidosis is a group of diseases in which one or more organ systems accumulate deposits of abnormal proteins, called amyloid proteins. These abnormal proteins originate from cells in the bone marrow that makes antibodies or proteins that protect people from infection and disease.
When a person has amyloidosis, bone marrow produces faulty antibodies that build up in the bloodstream and tissues. Once enough amyloid proteins build up in one or more organs, organs begin to malfunction. Amyloidosis affects the heart, kidneys, nervous system, gastrointestinal tract including the tongue, stomach small intestines and colon, and many other areas.
Fortunately, amyloidosis is rare, affecting about eight per 1 million people annually. The majority of those affected are over 40 years of age and 60 percent are male, although the condition can affect anyone. The cause of the disease remains unknown.
People may be at increased risk if they have a chronic infectious or inflammatory disease, a family history of the disease or multiple myeloma — a form of bone marrow cancer. About 10 percent of people who have multiple myeloma develop amyloidosis. Patients requiring kidney dialysis — particularly for more than five years — also may be at increased risk for amyloidosis if their failing kidneys are unable to remove excess proteins from the blood, allowing abnormal proteins to build up and deposit in surrounding tissues.
There are three main types of Amyloidosis:-
- Primary Amyloidosis — This is a plasma cell disorder originating in the bone marrow. It is the most common type of amyloidosis in the United States, affecting 2,000 people each year. This condition, which is usually treated with chemotherapy, is not considered to be a type of cancer. However, it may be associated with multiple myeloma, which is a type of bone cancer. The severity of the illness often depends on the number and extent of organ involvement.
- Secondary Amyloidosis — This condition is caused by a chronic infection or inflammatory disease such as rheumatoid arthritis, familial Mediterranean fever (an intestinal disorder), osteomyelitis or granulomatous ileitis. The deposits in this type of the disease are made up of a protein called the AA protein. Medical or surgical treatment of the underlying chronic infection or inflammatory disease can slow or stop the progression of this type of amyloid.
- Familial (or Hereditary) Amyloidosis — This is the only type of amyloidosis that is inherited. It is a rare form of the disease affecting families of nearly every ethnic background. The deposits in this type are most commonly made up of the transthyretin protein produced in the liver. Amyloidosis results from a mutation in this protein.
Symptoms of amyloidosis depend on the organs it affects. The wide range of symptoms often makes amyloidosis difficult to diagnose. Some people may not experience any symptoms and others may have many symptoms.
Frequently described symptoms include:-
- Weight loss
- Shortness of breath
- Numbness or tingling in the hands or feet
- Severe fatigue
- An enlarged tongue
- Feeling full after eating smaller amounts of food than usual
- Dizziness upon standing
- Swelling of the ankles or legs
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