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What is TTR-FAP

What is TTR-FAP?

TTR-FAP stands for Transthyretin Familial Amyloid Polyneuropathy. TTR-FAP is hereditary. Knowing your family history can be helpful. It is also a progressive neurologic disease and early diagnosis can make a difference. The sooner a diagnosis is reached, the sooner you or a family member who may be affected can get the support that's needed.

 

What causes TTR-FAP?

Family genetics are the main cause of TTR-FAP. This means that there is a chance that the mutated gene that causes the disease can be inherited from one or both of your biological parents. And, if you carry the genetic mutation, there is a chance that you can pass it on to your children. A person may or may not develop the signs or symptoms of the disease, even though they carry the genetic mutation.

TTR-FAP is caused by a mutation in the TTR gene. This mutation can result in abnormal and unstable transthyretin proteins. These abnormal proteins can then build up and form structures called amyloid. Amyloid may deposit in a specific part of the nervous system called the peripheral nervous system.

  • The peripheral nervous system contains the nerves that carry information to and from your brain and spinal cord to other parts of your body (arms, legs, stomach, etc)
  • Amyloid that deposit in the peripheral nervous system can lead to a decline in neurologic function
  • Amyloid may also deposit in other parts of your body, such as your kidneys, heart, and digestive system, and can interfere with their normal functions. This can lead to a number of various symptoms

 

When can symptoms first appear?

TTR-FAP can affect people as early as in their 30s (sometimes later). It depends on family genetics, ethnic background, and geographic location.


 

Where is TTR-FAP most commonly found?

Although TTR-FAP occurs worldwide, it is more common among families of Swedish, Portuguese, or Japanese ancestry. Even when TTR-FAP is inherited, it may be difficult to recognize a family pattern.

There is greater disease awareness in these endemic countries than in other, nonendemic countries because of the increased prevalence.

TTR-FAP is also found in nonendemic countries, such as the United States, various countries in Europe (eg, France, Italy, Spain, Germany, and UK), Brazil, Taiwan, and other countries.