Amyloidosis is a rare disease that occurs when an abnormal protein called amyloid deposits on organs in the body, including the heart, kidney, liver, gastrointestinal tract and nervous system.
There are different types of amyloidosis, but there are two major types that account for the majority of cases:
- Immunoglobulin light chain amyloidosis (AL), is the most common form and occurs when excess bone marrow plasma cells secrete the protein that forms amyloid. This form of amyloidosis is similar to multiple myeloma, and most commonly affects the heart, kidneys and nervous system.
- TTR (transthyretin) amyloidosis can occur either from an inherited mutation in the transthyretin gene (ATTR-mutated) or from normal transthyretin (ATTR wild-type)
Diagnosing amyloidosis can be challenging, as symptoms may be vague and similar to those of other common diseases. Amyloidosis can affect nearly every organ system, but most commonly affects the heart, kidney and nervous system. Symptoms may include fatigue, dizziness, shortness of breath, swelling in the ankles, and tingling of the hands and feet.
Treating amyloidosis depends greatly on the type of amyloidosis and extent of organ involvement. AL amyloidosis is frequently treated with chemotherapy or autologous stem cell transplant. ATTR amyloidosis is treated with medications and, in select cases, cardiac transplant.