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Learn more about Familial amyloid polyneuropathy
Content updated on Jun 1, 2022
What is familial amyloid polyneuropathy?
Familial amyloid polyneuropathy (FAPs) are a group of life-threatening multisystem inherited disorders in which amyloid (abnormal protein that can be deposited in any tissue) deposit in the nerve fibers and around the nerves.
Symptoms related to familial amyloid polyneuropathy
Decreased sensation over skin
Feel the heart is pounding
Numbness anywhere from the knees to the ankles
Leg or foot numbness
Numbness or abnormal sensation
Unable to move both legs
Dizziness
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 have numbness in your feet?
Do you feel any numbness or change in sensation?
Treatment for familial amyloid polyneuropathy
Pain due to familial amyloid polyneuropathy can be treated with anti-seizure medications, antidepressants, or pain killers including opiate drugs. Almost all amyloid in the bloodstream are made in the liver. Hence, liver transplant may be considered to prevent further amyloid deposits.
View the symptoms of Familial amyloid polyneuropathy
Diseases related to Familial amyloid polyneuropathy
Rheumatoid arthritis (RA)
Chronic pain
Lumbar spondylosis
Diabetic Gangrene
Bruise
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
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Seiji Kanazawa, MD, PHD
Obstetrics and gynecology (OBGYN)
National Center for Child Health and Development, Japan