Transthyretin Familial Amyloid Polyneuropathy
What Is Transthyretin Familial Amyloid Polyneuropathy (TTR-FAP)?
TTR-FAP is a disease that affects your nervous system. It causes too much of a protein called amyloid to build up in your body's organs and tissues. It's a progressive disease, which means it gets worse over time.
The only treatment that can stop the progress of TTR-FAP and help you live longer is a liver transplant.
But there are other treatments, including medicine and changes in your diet, that can help ease many of the symptoms. Researchers are also testing new drugs that slow the growth of the unwanted protein.
It's important to reach out to family and friends to talk about any worries you have and get the emotional support you need.
When you have TTR-FAP, you may develop a variety of symptoms when too much amyloid protein starts to collect in the nerves that branch out from your brain and spinal cord. This can affect your senses. For instance, you may be less likely to feel pain or heat, or have trouble walking. Or it could affect your hearing or vision.
This protein also gathers in the nerves that control important actions in your body, like blood pressure, heart rate, and digestion. You may have trouble going to the bathroom or having sex, or you may sweat too much. Your heart may beat too fast or too slowly.
The most serious symptoms -- and the ones that are most life-threatening -- are an enlarged heart and an irregular heartbeat.
TTR-FAP can affect people of almost any age, from their 30s to 50s or even later.
Your doctor might also use the word "amyloidosis" when talking about the condition. That's because TTR-FAP is one of a group of diseases also known by that name.
As the name suggests, transthyretin familial amyloid polyneuropathy runs in families. If you have it, you got it from genes your parents passed to you.
It's most common in people of Japanese, Portuguese, or Swedish ancestry.
Because TTR-FAP can affect a number of organs and systems in your body, it can have a lot of different symptoms. The most serious problems are heart enlargement and irregular heartbeats, the cause of death in many people with TTR-FAP.
You might have numbness, tingling, and swelling in your hands and feet. Or you could have problems like diarrhea, constipation, feeling full as soon as you start eating, and trouble peeing. You might also feel very tired.
Some eye problems you could get include:
- Dry eyes
- Increased pressure in the eye (glaucoma)
Getting a Diagnosis
If you know that TTR-FAP runs in your family, your doctor will probably suggest you get a DNA test to see if you have the gene that causes it. He checks a sample of your blood, cheek cells, or skin.