Emily Malcolm, PhD,  —

A tissue biopsy is one of several tests doctors may use to confirm a diagnosis of familiar amyloid polyneuropathy (FAP), a rare disease characterized by the buildup of protein aggregates (clumps) in tissue and around nerve cells. What is a tissue biopsy? Doctors will remove a small piece…

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…

If you have familial amyloid polyneuropathy (FAP), a progressive neurodegenerative disease, your doctor has probably talked to you about screening for problems with your heart. About 80% of FAP patients have cardiac involvement. If left untreated, heart disease can have serious consequences for your health. What causes heart problems…

Familial amyloid polyneuropathy (FAP) is a disorder in which abnormal clumps of proteins called TTR amyloids accumulate in tissues and organs, interfering with their function. The aqueous humor of the eyes is one place where TTR amyloids accumulate. This is the jellylike substance that makes up most…

Managing your treatment and care when you have a rare disease such as familial amyloid polyneuropathy (FAP) can be challenging, especially if your care team hasn’t previously treated many patients with your disease. Here are five tips for making the most of your doctor’s visit: Make a list of…

Finding out that you have a rare disease, like familial amyloid polyneuropathy (FAP), that may affect your lifespan can be challenging and frightening. It’s important to talk to your care team about the future. Some people can also benefit from talking to a counselor after a diagnosis. Local and…

Finding new treatments for rare diseases such as familial amyloid polyneuropathy (FAP) is challenging. One way that patients can help with developing and evaluating new treatments is by participating in clinical trials. What are clinical trials? Clinical trials allow researchers and physicians to test new devices, medications,…

Genetic testing is a medical procedure that can determine whether you have changes in your genes or chromosomes that could cause disease. This type of testing is voluntary, and helps to identify diseases before symptoms appear. Such early identification can, for a number of diseases including FAP, be key…

If you’ve been diagnosed with familial amyloid polyneuropathy (FAP), you may be wondering about how the disease might affect the length of your life. There are a number of factors that affect lifespan for everyone. These include genetics, environment, and family history. It’s important to talk with your…

If  you or a family member are diagnosed with familial amyloid polyneuropathy (FAP), a rare progressive disease that affects nerves and other tissues, you should talk to your doctor about getting genetic counseling. What is genetic counseling? Genetic counselors are trained to talk to people with a genetic disease…