Amyloidosis refers to a rare group of diseases that occur when the bone marrow produces abnormal proteins called amyloids, which build up in various organs in the body.
The most common type of amyloidosis is called AL amyloidosis (immunoglobulin light chain amyloidosis). In AL amyloidosis, portions of an antibodies called light chains—produced by cells in the bone marrow called plasma cells—forms amyloids. Once the amyloids are deposited in your body, the immunoglobulin light chains cannot be easily broken down. They accumulate in organs—usually the kidneys, heart, gastrointestinal (GI) tract, soft tissues and the nervous system—and interfere with their normal function.
Not every patient will have the same pattern of amyloid deposition, and it’s common for the disease to affect multiple organs.
Gender and age can increase your risk of amyloidosis; nearly 70% of people diagnosed with AL amyloidosis are men, and the majority of those diagnosed are in their 60s or 70s.
Here are some common signs and symptoms that are associated with AL amyloidosis.
Heart
The heart muscles can thicken and become stiff when too many amyloids build up in this area of the body. As a result, the heart is unable to function properly, which can lead to:
- Shortness of breath
- Swelling of the lower extremities
- Distention (bloating/swelling) of the belly
- Arrhythmia, a condition characterized by an irregular heartbeat often presenting as fluttering in the chest or dizziness.
Digestive system
Amyloid deposits in the GI tract can result in:
- A change of taste sensation
- Nausea
- Diarrhea/constipation
- Weight loss
- Loss of appetite
- Feeling full after only eating a small amount
- Sometimes, streaks of blood in the stool
Kidneys
Amyloid deposits in the kidneys can prevent the organ from properly filtering out toxins and proteins in the blood, so many patients with amyloidosis often also have chronic kidney disease. If left untreated, severe cases can result in full on renal failure or a condition called nephrotic syndrome, where swelling (edema) occurs in the lower legs, stomach, arms, and lungs due to the unfiltered, excess protein in the blood. The kidneys may also start failing, causing:
- Fatigue
- Poor appetite
- Nausea
- Tremulousness
- When severe, abnormal rhythms of the heart
Nervous system
Amyloid deposits can interfere with the nerves of your hands, feet, and lower legs, potentially causing sensory peripheral neuropathy, which presents with abnormal sensations such as pain, numbness, and tingling or loss of sensitivity to temperature. Automatic neuropathy can affect nerves that control blood pressure, erectile function, bowel motility, and various other bodily functions, and can present with dizziness upon standing, erectile dysfunction, and constipation with abdominal cramping, alternating with diarrhea.
Soft tissues
Involvement of soft tissues with AL amyloidosis can present as easy bruising or bloody blisters, brittle nails, purplish or reddish discoloration around the eyelids (periorbital purpura) or an enlarged tongue. Sometimes, pain at the angle of the jaw while chewing can occur.
Early, often non-specific symptoms include:
- Severe fatigue
- Generalized weakness
- Weight loss