AL Amyloidosis

AL amyloidosis is the buildup of abnormal protein fibers in the organs. The condition is also known as amyloid light-chain amyloidosis. The protein fibers are made of antibody components called light chains. Antibodies are proteins that form part of the body's immune system. The condition can affect various parts of the body, including the heart, liver, digestive system, and nervous system. It's most common in the kidneys. Symptoms may include fatigue, shortness of breath, swollen legs, and weight loss.

Treatment may include chemotherapy. Sometimes, stem cell transplantation is required. The outlook varies and is often better with early diagnosis. AL amyloidosis often arises combined with other diseases of the blood-forming system, e.g. myeloma or lymphoma.

Light chains are produced by plasma cells, specific cells for the body’s defenses, as part of the antibodies. AL amyloidosis occurs when too many light chains are produced. This usually happens when a certain kind of plasma cell rapidly multiplies in the bone marrow (the spongy tissue inside many bones of the body). Instead of forming complete antibodies, these specific plasma cells build ill-shaped light chains. These connect to form amyloid fibers and build up in different body organs. This rare condition is more common in people aged 50 and over. 1 It's slightly more common in men than women.

Symptoms of AL amyloidosis vary depending on what organs are affected. They often include fatigue, weakness, loss of appetite, and unexpected weight loss. There may also be swelling of the face, legs, and ankles. Difficulty breathing may also be experienced. Some people may feel pins and needles, numbness, and pain in their legs and arms. The condition can also cause skin changes, bruising around the eye, and swelling of the tongue. Other symptoms may include diarrhea, constipation, lightheadedness, and an irregular heartbeat. 2

AL amyloidosis may be difficult to diagnose. It's suspected based on medical history. A complete physical exam and blood and urine tests may be required. These can reveal organ damage. Diagnosis can be confirmed with a biopsy or tissue sample. The biopsy can be taken from the belly fat or salivary glands. Sometimes, it may be necessary to take a small tissue sample from the nerves, kidney, liver, or bowel.

Treatment involves reducing the symptoms and stopping the growth of cells that produce abnormal light chains. This is often managed by a group of specialists. Depending on the situation, treatment may improve quality of life and the outlook. It often includes chemotherapy to slow the formation of protein fibers. Sometimes, a stem cell transplant may be necessary.

The outlook depends on what organs are affected by the condition. It's a serious condition that always requires treatment. The earlier the diagnosis, the better the outlook.