Appalachian type amyloidosis is a disorder in which your body piles up an abnormal protein called amyloid. Amyloid accumulation can impair organs and induce them to fail gradually.  Despite its rarity, this condition has the potential to be dangerous.

Moreover, Appalachian type amyloidosis can damage the kidneys, heart, joints, skin, nerves, soft tissues, intestines, and liver. Other than that, amyloid can sometimes pile up all across your body. Systemic amyloidosis, which influences the entire body, is the name for this condition.


In the early stages of Appalachian type amyloidosis, there may be no symptoms. As the illness develops, the symptoms you encounter change, depending on which organs are harmed.

However, if your heart is impacted, you may experience the following symptoms:

Likewise, you may experience the following symptoms if your kidneys and liver are affected:

  • Swelling in the legs
  • Foamy urine
  • Swelling and pain in the upper portion of the belly

If your gastrointestinal tract is disrupted, you may experience these symptoms:

  • Nausea 
  • Constipation
  • Diarrhea 
  • Weight loss
  • A feeling of fullness even after eating a small amount of food

Other signs and symptoms to look out for include:

  • Joint pain
  • Fatigue
  • Weakness
  • Carpal tunnel syndrome
  • Bruising on your skin or around your eyes
  • Swollen tongue

If any of these symptoms last longer than a day or two, see your doctor.


To determine if you have this condition, the medical staff will ask you some questions including your medical history and manifestation. The symptoms of amyloidosis can be similar to those of other disorders, it’s crucial to inform your doctor of everything you’ve noticed, as misdiagnosis is prevalent.

Your doctor may request one or more of the tests listed below to assist in confirming the diagnosis:

  • 2D-echo
  • Bone marrow aspiration
  • Urine and blood tests
  • Biopsy


There is no cure for Appalachian type amyloidosis. The goal of therapy is to alleviate symptoms by delaying the formation of amyloid protein in the body.

In addition, the following drugs are used to address the symptoms:

  • Medicines that can help control your heart rate
  • Diuretics to decrease fluid build up in your body
  • Pain killer
  • Drugs used to manage nausea, vomiting, and diarrhea

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