Types and Symptoms
Types and Symptoms of Amyloidosis
Each type of amyloidosis is associated with different symptoms that are dependent upon which organ systems are affected. Many of the noticeable symptoms are general and occur in other diseases thus making diagnosis difficult. Amyloidosis can be definitively diagnosed with a biopsy test (tissue removed from the body and examined to identify the type and extent of disease).
Amyloidogenic light chain (AL) amyloidosis: This type of amyloidosis originates from abnormal cells in the bone marrow and can affect the heart, kidneys, skin, nerves, gastrointestinal tract and liver.
Amyloidogenic transthyretin (ATTR) amyloidosis: This type of amyloidosis originates from the liver which produces a protein called transthyretin which misfolds, breaks down and ultimately forms amyloid proteins. Transthyretin is a normal protein that is abundant in the blood.
In the hereditary form of ATTR amyloidosis, individuals have a genetic abnormality in the gene that encodes the transthyretin protein resulting in misfolding and build-up of the protein.
In the non-hereditary (age-related) form of ATTR amyloidosis, there is misfolding and build-up of the transthyretin protein without any genetic abnormality. This form of amyloidosis is also called wild-type ATTR amyloidosis.
Both hereditary and non-hereditary forms of ATTR amyloidosis are now recognized as being less rare than once thought. Hereditary ATTR most commonly affects the nervous system and heart, depending on the specific genetic variant of the gene. Non-hereditary ATTR mainly affects the heart.
Amyloidogenic inflammation-related (AA) Amyloidosis: This rare type of amyloidosis occurs in individuals with chronic infections or inflammatory diseases. It may affect the heart, but more commonly affects the kidneys, liver and/or digestive tract.
The symptoms of amyloidosis are determined by what organs are affected.
- Heart: heart failure symptoms include leg and abdominal swelling, shortness of breath and fatigue
- Nervous system: symptoms include numbness, burning or tingling in the extremities (arms/legs) and low blood pressure leading to dizziness or fainting
- Digestive system: symptoms include diarrhea and weight loss
- Kidneys: symptoms include protein in the urine
- Easy bruising, especially around the eyes