Familial Amyloid Polyneuropathy Quiz

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Reviewed By:

Benjamin Kummer, MD

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

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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Content updated on Mar 31, 2024

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  • My body is jerking

  • Twitching

  • Fever seizures (with fever of >100.4°F / 38°C)

  • Dizziness

  • The first seizure

  • Repetitive seizures

  • Seizure with fainting

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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.

Typical Symptoms of Familial Amyloid Polyneuropathy

  • Seizure

  • Numbness anywhere from the knees to the ankles

  • Unable to move both legs

  • Dizziness

  • Tingling or pricking numbness in the legs even when keeping still

  • Reduced sensitivity to feeling pain

  • Reduced sweating

  • Difficulty achieving or maintaining an erection

Doctor's Diagnostic Questionson Familial Amyloid Polyneuropathy

Your doctor may ask these questions to check for this disease:

  • Have you had a seizure?

  • Do you have numbness in your lower legs?

  • Are you unable to move both legs?

  • Are you currently dizzy?

  • Do you have tingling or numbness in your legs even when you're not moving?

Treatmentof 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.

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Familial Amyloid Polyneuropathy

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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

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

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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