TTR-FAP Wiki & Common Questions
Here is an overview of information you, your loved ones, and your family members should know.
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.
Learn about how TTR-FAP progresses.
TTR-FAP affects a small number of people. The current estimate is about 8,000 to 10,000 people worldwide. Learn more about TTR-FAP around the world.
TTR-FAP presents as a combination of symptoms that can include:
Sensory and motor signs and symptoms in the legs and/or hands, such as:
- Reduced ability to sense temperature
- Numbness and tingling
- Carpal tunnel syndrome
- Muscle weakness
Involuntary (autonomic) symptoms, such as:
- Dizziness or fainting upon standing
- Alternating bouts of constipation and diarrhea
- Inability to obtain or maintain an erection
- Difficulty urinating or holding urine
- Unintentional weight loss
- Abnormal (fluttering) heartbeat
It's important to know that the combination and onset of symptoms can differ for each patient. Talk with your healthcare professional to learn more.
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. Learn more about genetic testing
Family genetics are the main cause of TTR-FAP. This means that it can be inherited from either one of your biological parents, even if neither of them has developed signs or symptoms of the disease. For some patients, a family history can be helpful in getting an early diagnosis. That's why you should work closely with your doctor and always discuss diseases and symptoms your family members have experienced.
If you have a loved one or a family member who may have the genetic mutation that causes TTR-FAP, learn more about genetic testing for TTR-FAP.
Genetic testing is a way of looking for changes, or mutations, in a person’s genes. Results from a positive genetic test can mean that a person has TTR-FAP or is at risk for TTR-FAP. Even if the mutated gene is present, this does not mean the person has TTR-FAP. It means they could also develop symptoms later on.