Familial Amyloid Polyneuropathy Quiz
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Reviewed By:
Benjamin Kummer, MD (Neurology)
Dr Kummer is Assistant Professor of Neurology at the Icahn School of Medicine at Mount Sinai (ISMMS), with joint appointment in Digital and Technology Partners (DTP) at the Mount Sinai Health System (MSHS) as Director of Clinical Informatics in Neurology. As a triple-board certified practicing stroke neurologist and informaticist, he has successfully improved clinical operations at the point of care by acting as a central liaison between clinical neurology faculty and DTP teams to implement targeted EHR configuration changes and workflows, as well as providing subject matter expertise on health information technology projects across MSHS. | Dr Kummer also has several years’ experience building and implementing several informatics tools, presenting scientific posters, and generating a body of peer-reviewed work in “clinical neuro-informatics” – i.e., the intersection of clinical neurology, digital health, and informatics – much of which is centered on digital/tele-health, artificial intelligence, and machine learning. He has spearheaded the Clinical Neuro-Informatics Center in the Department of Neurology at ISMMS, a new research institute that seeks to establish the field of clinical neuro-informatics and disseminate knowledge to the neurological community on the effects and benefits of clinical informatics tools at the point of care.
Shohei Harase, MD (Neurology)
Dr. Harase spent his junior and senior high school years in Finland and the U.S. After graduating from the University of Washington (Bachelor of Science, Molecular and Cellular Biology), he worked for Apple Japan Inc. before entering the University of the Ryukyus School of Medicine. He completed his residency at Okinawa Prefectural Chubu Hospital, where he received the Best Resident Award in 2016 and 2017. In 2021, he joined the Department of Cerebrovascular Medicine at the National Cerebral and Cardiovascular Center, specializing in hyperacute stroke.
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Learn more about Familial amyloid polyneuropathy
Content updated on Sep 20, 2022
What is familial amyloid polyneuropathy?
Familial amyloid polyneuropathy (FAPs) are life-threatening, multisystem, inherited disorders where amyloid (an abnormal protein that can be deposited in any tissue) accumulates in nerve fibers and around nerves.
Symptoms of familial amyloid polyneuropathy
Decreased sensation over skin
Feel the heart is pounding
Numbness anywhere from the knees to the ankles
Numbness or abnormal sensation
Leg or foot numbness
Dizziness
Unable to move both legs
Weakness in arms or legs
Questions your doctor may ask to check for familial amyloid polyneuropathy
Your doctor may ask these questions to diagnose familial amyloid polyneuropathy
Do you feel the sensation on your skin has changed?
Do you feel your heart is pounding?
Do you have numbness from your knees down (such as ankles)?
Do you feel any numbness or change in sensation?
Do you have numbness in your feet?
Treatment for familial amyloid polyneuropathy
Pain from familial amyloid polyneuropathy can be treated with anti-seizure medications, antidepressants, or painkillers, including opiate drugs. Almost all amyloid in the bloodstream is made in the liver, so a liver transplant may be considered to prevent further amyloid deposits.
View the symptoms of Familial amyloid polyneuropathy
Diseases related to Familial amyloid polyneuropathy
References
Planté-Bordeneuve V, Said G. Familial amyloid polyneuropathy. Lancet Neurol. 2011 Dec;10(12):1086-97. doi: 10.1016/S1474-4422(11)70246-0. PMID: 22094129.
https://www.thelancet.com/journals/laneur/article/PIIS1474-4422(11)70246-0/fulltext
Adams D, Cauquil C, Labeyrie C. Familial amyloid polyneuropathy. Curr Opin Neurol. 2017 Oct;30(5):481-489. doi: 10.1097/WCO.0000000000000476. PMID: 28678039.
https://journals.lww.com/co-neurology/Abstract/2017/10000/Familial_amyloid_polyneuropathy.7.aspx
Conceição I, González-Duarte A, Obici L, Schmidt HH, Simoneau D, Ong ML, Amass L. "Red-flag" symptom clusters in transthyretin familial amyloid polyneuropathy. J Peripher Nerv Syst. 2016 Mar;21(1):5-9. doi: 10.1111/jns.12153. PMID: 26663427; PMCID: PMC4788142.
https://onlinelibrary.wiley.com/doi/10.1111/jns.12153
Barreiros AP, Galle PR, Otto G. Familial amyloid polyneuropathy. Dig Dis. 2013;31(1):170-4. doi: 10.1159/000347214. Epub 2013 Jun 17. PMID: 23797140.
https://www.karger.com/Article/Abstract/347214
User testimonials
Reviewed By:
Benjamin Kummer, MD (Neurology)
Dr Kummer is Assistant Professor of Neurology at the Icahn School of Medicine at Mount Sinai (ISMMS), with joint appointment in Digital and Technology Partners (DTP) at the Mount Sinai Health System (MSHS) as Director of Clinical Informatics in Neurology. As a triple-board certified practicing stroke neurologist and informaticist, he has successfully improved clinical operations at the point of care by acting as a central liaison between clinical neurology faculty and DTP teams to implement targeted EHR configuration changes and workflows, as well as providing subject matter expertise on health information technology projects across MSHS. | Dr Kummer also has several years’ experience building and implementing several informatics tools, presenting scientific posters, and generating a body of peer-reviewed work in “clinical neuro-informatics” – i.e., the intersection of clinical neurology, digital health, and informatics – much of which is centered on digital/tele-health, artificial intelligence, and machine learning. He has spearheaded the Clinical Neuro-Informatics Center in the Department of Neurology at ISMMS, a new research institute that seeks to establish the field of clinical neuro-informatics and disseminate knowledge to the neurological community on the effects and benefits of clinical informatics tools at the point of care.
Shohei Harase, MD (Neurology)
Dr. Harase spent his junior and senior high school years in Finland and the U.S. After graduating from the University of Washington (Bachelor of Science, Molecular and Cellular Biology), he worked for Apple Japan Inc. before entering the University of the Ryukyus School of Medicine. He completed his residency at Okinawa Prefectural Chubu Hospital, where he received the Best Resident Award in 2016 and 2017. In 2021, he joined the Department of Cerebrovascular Medicine at the National Cerebral and Cardiovascular Center, specializing in hyperacute stroke.
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Cardiothoracic Surgery, Vascular surgery
Cardiothoracic and Vascular Surgery Associates
