Primary amyloidosis
Primary Amyloidosis (also known as AL Amyloidosis) is a rare and serious protein disorder. It is characterized by the production of abnormal protein fibers, known as amyloid, which can deposit in various organs and tissues in the body, causing damage and dysfunction.
Etiology[edit | edit source]
Primary Amyloidosis is caused by the overproduction of immunoglobulin light chain (a type of protein) by the plasma cells in the bone marrow. These proteins misfold and aggregate to form amyloid fibrils, which are deposited in various tissues and organs. The exact cause of this overproduction and misfolding is not well understood, but it is thought to be related to genetic factors and possibly environmental triggers.
Symptoms[edit | edit source]
The symptoms of Primary Amyloidosis can vary widely, depending on which organs are affected. Common symptoms can include fatigue, weight loss, shortness of breath, and swelling in the legs and ankles. If the heart is affected, it can lead to congestive heart failure. If the kidneys are affected, it can lead to kidney failure.
Diagnosis[edit | edit source]
Diagnosis of Primary Amyloidosis can be challenging, due to the wide range of symptoms and the rarity of the condition. It often involves a combination of blood tests, urine tests, and biopsy of affected tissue. Imaging tests such as echocardiogram and MRI may also be used.
Treatment[edit | edit source]
Treatment for Primary Amyloidosis is aimed at reducing the production of the abnormal proteins and managing the symptoms. This can involve chemotherapy to suppress the overactive plasma cells, and medications to manage symptoms. In severe cases, a stem cell transplant may be considered.
Prognosis[edit | edit source]
The prognosis for Primary Amyloidosis can vary widely, depending on the organs affected and the severity of the disease. With treatment, some people can live for many years with the condition. However, in severe cases, the disease can be life-threatening.
See also[edit | edit source]
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Contributors: Prab R. Tumpati, MD
