Familial amyloid polyneuropathy (FAP) is a rare and complex disease that affects multiple systems in the body. Many physicians are unfamiliar with it and its treatment. This could present a major problem, particularly in a medical emergency.
Therefore, if you have FAP, developing and maintaining a treatment plan together with your primary physician can help ensure you get the best care possible.
What is FAP?
FAP is a progressive disorder in which patients experience severe neuropathy and cardiac dysfunction. It is caused by mutations in the TTR gene leading to the formation of deposits of amyloid fibrils in the nerve cells and elsewhere in the body.
How do doctors treat it?
Although no medications can reverse the damage caused by the amyloid deposits, approved treatments can help manage the symptoms of the disease and slow the buildup of amyloids in the nervous system and other organs, thereby delaying disease progression and improving patients’ life expectancy.
Nearly all the TTR amyloid fibrils in the bloodstream are made in the liver and form amyloid deposits everywhere in the body except in the eye and blood vessels around the brain. Thus, a liver transplant is usually an option for patients with defective TTR proteins.
What is a treatment plan?
A treatment plan comprises a description of your disease and a list of common symptoms, underscoring those that you’ve been experiencing. Such a plan also has information about prescribed medications and supplements you currently take, including their dosage and possible side effects.
Your treatment plan should also contain the contact information of your primary care physician. Other emergency contacts, such as your healthcare proxy and a relative, should also be included.
FAP can be life-threatening, primarily because of heart enlargement and irregular heartbeats. Some patients also experience postural hypotension — a drop in blood pressure that can lead to dizziness or fainting upon standing. Other symptoms include shortness of breath, which may make it difficult or impossible for you to explain your condition. This underscores the importance of having a treatment plan readily available.
Who gets a copy of your treatment plan?
If you provide emergency room personnel with your plan, they can contact your physician for any questions about your treatment. Another copy should go to your healthcare proxy, a legally designated individual who can, if necessary, make medical decisions on your behalf. Make sure you discuss the plan with your medical proxy.
If you are in school, you should make the school nurse or clinic aware of your condition, and give them a copy of your treatment plan. School officials need to be ready to treat you if you need medical care while at school.
If you are employed, you should give a copy of your treatment plan to your workplace representatives. This way, they can call your emergency contacts if necessary.
How should you update your treatment plan?
Review your treatment plan and update all necessary sections after each doctor’s visit. Did your doctor prescribe new medications? Do they have new recommendations? Are you trying a new treatment? Have the dosages of your current medications changed? Include all this information in your treatment plan.
After each update, make sure everyone with a copy of your treatment plan has the most current information.
Last updated: Aug. 20, 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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