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How TTR-FAP is Diagnosed

How TTR-FAP is Diagnosed

TTR-FAP can mimic symptoms of other diseases that affect the peripheral nervous system.

One of the challenges for some doctors who may not be familiar with this rare disease is bringing together all the symptoms that seem unrelated in an individual patient. Be sure to discuss all of the signs and symptoms you may be experiencing with your doctor. The sooner you are diagnosed, the sooner you and your doctor can assess your risk and begin your best course of action.

 

How TTR-FAP is diagnosed

Your family history plays an important role in your diagnosis. Talk with your healthcare professional about your family history. He or she may suggest tests that might be right for you. Depending on your signs and symptoms, your healthcare professional may use several different tests to learn more about what's causing your symptoms.

These tests can include:

  • Tissue biopsy: This is where a sample of tissue (eg, fat) is removed to determine if you have the amyloid deposits that are associated with TTR-FAP
  • Genetic testing: This test identifies the genetic mutation that causes TTR-FAP and can help your healthcare professional confirm your diagnosis
 

Get more support

If you have or think you have TTR-FAP, you're not alone. Go to Connect where you can find more information about TTR-FAP, including:

  • How symptoms progress
  • Family genetics
  • How to build a customized list of information and questions to share with your healthcare professional
  • Where to find TTR-FAP Centers
  • Answers for common questions about TTR-FAP
  • Where to find the right support for you