Home A-E Amyloidosis: Symptoms, Causes, Diagnosis and Management

Amyloidosis: Symptoms, Causes, Diagnosis and Management

Amyloidosis is a disease that occurs when abnormal proteins (Amyloid) pile up in your tissues and organs. These proteins are abnormal because they are insoluble and cause damage to the cells of your body. The affected organs may include the heart, kidneys, spleen, nervous system, musculoskeletal system, and digestive tract (liver, pancreas, tongue). Amyloidosis may occur by itself or with another disease.

Amyloidosis

Symptoms

In early disease, you may not experience symptoms. But as the disease progresses, symptoms begin to occur depending on the affected organ. Some of the symptoms include:

  • Severe tiredness
  • Breathlessness
  • Swelling of your legs
  • Discoloration around your eyes
  • Numbness, tingling, or pain in your wrist or feet
  • Diarrhea or constipation
  • Tongue enlargement
  • Weight loss
  • Difficulty swallowing

Causes

Causes of amyloidosis may be classified based on whether they affect many organs at once, are restricted to one organ, or are inherited.

  • Systemic Amyloidosis: These types affect many organs in the body at the same time. They could be further classified into:
    • Primary Amyloidosis: This is the most common type and is due to the accumulation of proteins called AL proteins, a part of immunoglobulins, in the body. It is usually seen in multiple myeloma and other disorders of plasma cells.
    • Secondary Amyloidosis: This is usually seen in chronic inflammatory conditions like cancer, rheumatoid arthritis, inflammatory bowel disease, or familial Mediterranean fever. The proteins that accumulate are called Serum Amyloid A (AA proteins).
    • Dialysis-related Amyloidosis: This occurs during long-time dialysis. β2-microglobulin proteins accumulate in tissues, especially the joints.
  • Localized Amyloidosis: This is usually restricted to one organ. Examples include:
    • Accumulation of β-amyloid protein in the brain causing Alzheimer’s disease
    • Accumulation of IAPP protein in the pancreas causing Type 2 Diabetes mellitus
    • Accumulation of abnormal Calcitonin protein in the thyroid causing Medullary thyroid cancer
    • Accumulation of normal transthyretin (TTR protein) in the heart ventricles, causing wild-type amyloidosis
  • Hereditary Amyloidosis: This type is inherited and occurs when mutated transthyretin (ATTR protein) accumulates in the heart, nerves, and kidneys

Diagnosis

Your urine and blood may be analyzed so as to look for these abnormal proteins. Your liver and thyroid function may also be tested. A tissue sample may be taken from you to the lab to be looked at under a microscope. Other tests to assess your organ function may include echocardiography, MRI, and nuclear imaging.

Treatment

Although Amyloidosis has no cure, the management goals are to improve the function of your body organs that have been affected by the disease and also prevent further accumulation of the abnormal proteins.

Management options that are available include:

  • Chemotherapy
  • Heart medications
  • Medications that reduce the production of these proteins
  • Autologous stem cell transplant
  • Dialysis
  • Organ transplant

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