Amyloidosis (patient information)
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-In-Chief: Varun Kumar, M.B.B.S.
Overview
Primary amyloidosis is a disorder in which abnormal proteins build up in tissues and organs. Clumps of the abnormal proteins are called amyloid deposits.
What are the symptoms of Amyloidosis?
Symptoms depend on the organs affected by the deposits. These organs can include the tongue, intestines, skeletal and smooth muscles, nerves, skin, ligaments, heart, liver, spleen, and kidneys.
Symptoms include:
- Abnormal heart rhythm
- Enlarged tongue
- Fatigue
- Numbness of hands and feet
- Shortness of breath
- Skin changes
- Swallowing problems
- Swelling in the arms and legs
- Weak hand grip
- Weight loss
Other symptoms that may occur with this disease:
- Decreased urine output
- Diarrhea
- Hoarseness or changing voice
- Joint pain
- Weakness
What causes Amyloidosis?
The cause of primary amyloidosis is unknown. The condition is related to abnormal and excess production of antibodies by a type of immune cell called plasma cells.
Primary amyloidosis can lead to conditions that include:
- Carpal tunnel syndrome
- Heart muscle damage (cardiomyopathy) leading to congestive heart failure
- Intestinal malabsorption
- Liver enlargement
- Kidney failure
- Nephrotic syndrome
- Neuropathy (nerves that do not work properly)
- Orthostatic hypotension (abnormal drop in blood pressure with standing)
The deposits build up in the affected organs, causing them to become stiff, which decreases their ability to function.
Who is at highest risk?
Risk factors have not been identified. Primary amyloidosis is rare. It is similar to multiple myeloma, and is treated the same way.
When to seek urgent medical care?
Call your health care provider if:
- You have symptoms of primary amyloidosis
- You know you have primary amyloidosis and you have difficulty breathing, persistent swelling of the ankles or other areas, decreased urine output, or other symptoms that may indicate complications have developed
Diagnosis
Your doctor may discover that you have an enlarged liver or spleen.
If organ damage is suspected, your doctor may order tests to confirm amyloidosis of that organ. For example:
- Abdominal ultrasound may reveal a swollen liver or spleen.
- An abdominal fat pad aspiration, rectal mucosa biopsy, or bone marrow biopsy can help confirm the diagnosis.
- A heart evaluation, including an ECG, may reveal arrhythmias, abnormal heart sounds, or signs of congestive heart failure. An echocardiogram shows poor motion of the heart wall, due to a stiff heart muscle.
- A carpal tunnel syndrome evaluation may show that hand grips are weak. Nerve conduction velocity shows abnormalities.
- Kidney function tests may show signs of kidney failure or too much protein in the urine (nephrotic syndrome).
- BUN level is increased.
- Serum creatinine is increased.
- Urinalysis shows protein, casts, or fat bodies.
This disease may also affect the results of the following tests:
- Bence-Jones protein (quantitative)
- Carpal tunnel biopsy
- Gum biopsy
- Immunoelectrophoresis - serum
- Myocardial biopsy
- Nerve biopsy
- Quantitative immunoglobulins
- Tongue biopsy
- Urine protein
Treatment options
Some patients with primary amyloidosis respond to chemotherapy focused on the abnormal plasma cells. A stem cell transplant may be done, as in multiple myeloma.
In secondary amyloidosis, aggressively treating the disease that is causing the excess amyloid protein can improve symptoms and/or slow the disease from getting worse. Complications such as heart failure, kidney failure, and other problems can sometimes be treated, when needed.
Where to find medical care for Amyloidosis?
Directions to Hospitals Treating Amyloidosis
What to expect (Outlook/Prognosis)?
How severe the disease is depends on the organs that are affected. When the heart and kidney are involved, it may lead to organ failure and death. Body-wide ( systemic) involvement can lead to death in 1 to 3 years.
Possible complications
- Congestive heart failure
- Death
- Endocrine failure (hormonal disorder)
- Kidney failure
- Respiratory failure