Amyloidosis is a rare disease with a number of types, and doctors do not completely understand the causes, reports the Mayo Clinic. The disease is marked by the build-up of proteins called amyloid within various organs.
Types
The most common form of the disease in the U.S., primary amyloidosis, is caused by abnormal functioning of your bone marrow, which overproduces amyloids. Secondary amyloidosis is brought on by another medical condition like rheumatoid arthritis or osteomyelitis, while familial amyloidosis occurs because of a birth defect that causes proteins to be formed improperly.
Symptoms
Symptoms of amyloidosis vary depending on what organs the disease affects but may include swelling of your ankles and legs, weakness, weight loss, shortness of breath, numbness or tingling in your hands or feet, diarrhea, constipation, feeling full after only eating a small amount of food, severe fatigue, tongue swelling, skin thickening, easy bruising, purple spots around your eyes, irregular heartbeat and difficulty swallowing.
Diagnosis
In some cases, doctors discover the first signs of amyloidosis through urinalysis that reveals protein in your urine. To fully diagnose the condition, your doctor is likely to perform surgical biopsies of your stomach fat, bone marrow, gums, salivary glands, skin or rectum, according to the Mayo Clinic.
Treatment
The most common treatment for primary amyloidosis is chemotherapy, while treatment for secondary forms of the disease focuses on treating the condition that led to the disease, reports the Amyloidosis Foundation. Hereditary amyloidosis is often treated with liver transplants, reports the Mayo Clinic.
Risks
Untreated, amyloidosis has the potential to cause damage to your heart, kidneys and nervous system, the Mayo Clinic says.
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