If you’ve been diagnosed with familial amyloid polyneuropathy (FAP), you may need to see a multidisciplinary treatment team of doctors — in addition to your primary care physician — so as to ensure that you get the best care.
FAP is a progressive disorder that causes a buildup of abnormal protein clumps called amyloids inside cells. Because these amyloids cause damage that can affect multiple organs in the body, you may need to be treated by different specialists, depending on your individual symptoms. This may include neurologists, cardiologists, gastroenterologists, urologists, and gynecologists. Other specialists, to include therapists, nephrologists, ophthalmologists, psychologists, and genetic counselors, also may be helpful in providing necessary treatment.
Damage to the nervous system from amyloid deposits can lead to a host of symptoms and medical complications. Peripheral neuropathy — nerve damage to the arms, legs, hands, and feet — is caused by damage to the peripheral nervous system, which controls sensation, movement, and motor coordination. Symptoms of peripheral neuropathy include tingling or burning sensations and muscle weakness in the limbs.
FAP also often leads to autonomic neuropathy, in which the autonomic nervous system is disrupted. The autonomic nervous system regulates bodily functions, such as the heart rate, digestion, respiratory rate, pupillary response, urination, and sexual arousal. Thus, autonomic neuropathy leads to issues such as digestion problems, low blood pressure, reduced blood flow to the fingers and toes, incontinence, and sexual dysfunction.
A neurologist can perform tests to monitor the progression of the disease and recommend possible medications or treatments that may help you.
Besides issues with the nervous system, heart problems also are very common in patients with FAP. Indeed, they are a primary cause of death among FAP patients. The TTR amyloid can build up in the heart tissue, making it stiffer and less able to pump blood. The amyloids also can cause damage to the tissue, leading to an irregular heartbeat, known as arrhythmia.
A cardiologist can monitor the function of your heart and look for any damage. Based on the findings, your cardiologist may recommend medications or even a pacemaker.
Autonomic nervous system damage includes the enteric nervous system, which is the one that controls the digestive system. Impairment of the enteric nervous system can lead to gastrointestinal issues such as nausea, vomiting, diarrhea, and constipation.
A gastroenterologist can perform testing to see where the issues might be coming from and suggest treatments to help with symptoms.
Urologists and/or gynecologists
Many patients with FAP experience problems with the urinary tract, such as incontinence and sexual dysfunction, caused by damage to the autonomic nervous system.
For urinary tract issues, a urologist may be able to suggest treatments to improve symptoms. For sexual dysfunction, either a urologist or gynecologist can assist you, depending on your gender. Either specialist can suggest treatments that may ease your symptoms.
A number of different therapists also may assist you during treatment. An occupational therapist can help you learn how to perform tasks with the reduced functionality of your limbs. Occupational therapy also can be combined with recreational therapy to help you stay active and socially engaged.
A physical therapist can help you with exercises and stretches to improve your strength, flexibility, balance, and overall health. Such theraplies can help improve your quality of life and keep you active and independent as long as possible.
FAP also can cause a buildup of amyloid in the kidneys, leading to damage. Over time the damage can accumulate and result in kidney failure.
Consulting with a nephrologist or kidney specialist can help assess any impact your disease is having on your kidneys and guide you to the necessary treatments.
TTR amyloids can form in the clear fluid inside of your eyes and lead to vision problems. These can include cloudy vision, dry eyes, glaucoma, damage to the optic nerve, or abnormalities in the pupils and blood vessels of the eye. All of these problems can affect your vision, so it’s important to seek treatment right away if you experience any symptoms.
An opthalmologist can help diagnose and provide treatment for many of these issues, or recommend you to other eye specialists.
It can be very stressful living with a chronic progressive disease such as FAP. At times you may feel overwhelmed or depressed.
A psychologist may be able to help you cope with these emotions to improve your mood and quality of life.
You may wish to speak with a genetic counselor to learn more about FAP and to find out more about your particular genetic mutation. Some mutations lead to more common symptoms than others. For example, Val120Ile mutations typically cause heart problems but no issues with the nervous system, while Val30Met mutations primarily causing neuropathy.
You also may want to meet with a genetic counselor if you are considering having children. These counselors can provide you with information about how likely it is for your children to inherit FAP. They also can guide you on your reproductive options to minimize the risk of having a child with FAP.
Last updated: Dec. 17, 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 provider 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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