Patients with familial amyloid polyneuropathy (FAP) may wonder how the age of onset of the symptoms relates to the progression of their disease. Here is some information that may answer those questions.
What causes FAP?
Mutations in the TTR gene cause FAP. These mutations cause the proteins the gene provides instructions to make to misfold and stick together, forming clumps known as amyloids. These amyloids interfere with tissue function and lead to the symptoms of the disease.
Age of onset of symptoms
For each person, the age of onset of disease symptoms may be different. The differences seem to depend on which particular mutation a patient has (researchers have identified more than 130 TTR mutations) and which organs the disease affects.
How age of onset relates to disease progression
On average, patients with FAP live about 10 years after receiving a diagnosis. However, in patients who receive a diagnosis after age 50, the disease seems to progress more slowly and they may live closer to 20 years after diagnosis. The exact cause of this is not clear.
New treatments and improvements in detection and diagnosis mean that life expectancy for patients is improving.
How can early diagnosis help?
Although there is no cure for FAP, there are treatments that may slow disease progression. Some interventions, such as a liver transplant, can be performed only in earlier stages of the disease because they are ineffective in later stages. So, early diagnosis is of paramount importance.
If you have a family history of FAP, you may want to talk to your doctor about whether you should get a genetic test for FAP, even if you do not have any symptoms.
Last updated: Aug. 13, 2020
FAP News Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health providers with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.
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