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What Is Amyloidosis?

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Updated January 15, 2012

What Is Amyloidosis?:

Amyloidosis develops when specific proteins, known as amyloids, are abnormally deposited in the tissues and organs of the body. The deposited amyloids impair the function of organs, making the condition potentially fatal.

Where Does Amyloid Develop?:

Amyloid is produced by plasma cells (a type of immune cell) in the bone marrow. Amyloids can be deposited in any tissue or organ in the body.

Types of Amyloidosis:

  • Primary amyloidosis - Begins in the bone marrow and primarily affects heart, kidneys, tongue, nerves and intestines. Not usually associated with other conditions.
  • Secondary amyloidosis - Associated with chronic infectious or inflammatory diseases. Mostly affects kidneys, spleen, liver and lymph nodes. Other organs may be affected.

  • Familial amyloidosis - Inherited condition which affects nerves, heart, and kidneys.

  • Conditions Associated With Secondary Amyloidosis:

    Symptoms of Amyloidosis:

    The symptoms of amyloidosis are defined by the organs affected. Some symptoms associated with amyloidosis include:

  • fatigue
  • numbness
  • weakness
  • weight loss
  • shortness of breath
  • swelling of arms and legs
  • difficulty swallowing
  • arrhythmia
  • skin abnormalities
  • tongue abnormalities
  • Serious conditions can result from improperly functioning organs. Decreased heart function and kidney failure are just two of the possible complications.

    Diagnosing Amyloidosis:

    Definitive diagnosis is made by detecting amyloid in a biopsy specimen. A biopsy of the affected tissue or organ may be performed. Biopsy of skin including subcutaneous fat, rectal mucosa (inner lining of the rectum), or bone marrow may also help diagnose.

    Other tests may include:

  • Heart evaluations (EKG or echocardiogram)
  • Kidney function tests
  • Abdominal ultrasound to detect enlarged liver or spleen
  • Evaluation for carpal tunnel to detect nerve involvement
  • Treating Amyloidosis:

    Primary amyloidosis may be treated with chemotherapy. Autologous stem cell transplantation is another possible treatment. Secondary amyloidosis may be helped by aggressive treatment of the underlying condition. Organs affected should be treated as well.

    What Does the Future Hold for Patients with Amyloidosis?:

    Amyloidosis cannot be prevented and cannot be cured. As stated, the course of amyloidosis depends on what organs are affected. If the heart and kidney are affected, organ failure and death are possible. Organ involvement may result in death within 1 to 3 years.

    Sources:

    Amyloidosis, MayoClinic.com

    Primary Amyloidosis, MedlinePlus

    Secondary Systemic Amyloidosis, ADAM

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