Newly Diagnosed: Taking the First Step on Your Journey
Becoming educated is a good place to start on your journey with familial amyloid polyneuropathy (FAP). Whether you are a patient or a caregiver, knowing as much as possible about the disease will help you be a more active participant in your or your loved one’s healthcare. Learn more below about FAP, its causes, symptoms, and diagnosis.
Familial amyloid polyneuropathy (FAP), or transthyretin amyloid polyneuropathy, is a rare, inherited, and progressive disease caused by the abnormal deposits of proteins or amyloids around peripheral nerves and other tissues.
There are several staging systems in place for FAP, but the most widely used for clinical practice is the Coutinho’s staging system, which classifies patients into three stages of the disease based on the severity of symptoms and the extent of disease progression.
FAP is caused by mutations in the TTR gene, potentially resulting in organ damage over time. Different mutations are associated with different patterns of organ involvement, age of onset, and disease progression.
Because amyloid fibrils gradually accumulate in different organs and tissues, FAP can lead to a variety of symptoms, including neuropathy and heart issues.
It is difficult to diagnose FAP, because it shares symptoms with other neuropathic disorders, most of which are much more common. Delays in diagnosis are not unusual and range from one to five years, depending on the possible presence of a positive family history.