TY - JOUR
T1 - Carpal tunnel syndrome and associated symptoms as first manifestation of hATTR amyloidosis
AU - Karam, Chafic
AU - Dimitrova, Diana
AU - Christ, Megan
AU - Heitner, Stephen B.
N1 - Publisher Copyright:
© 2019 American Academy of Neurology.
PY - 2019/8/1
Y1 - 2019/8/1
N2 - BackgroundHereditary transthyretin amyloidosis (hATTR) is associated with significant morbidity and mortality. Early diagnosis and treatment are essential to improve patient's outcome. Carpal tunnel syndrome (CTS) is a common complication of hATTR amyloidosis. However, because CTS is also common in the general population, we wanted to assess whether CTS, when associated with systemic manifestations, could help direct physicians to screen for TTR gene mutation and early diagnosis.MethodsWe reviewed the charts and interviewed the patients with hATTR seen between 2017 and 2018. We noted the details of CTS diagnosis, treatment, and other systemic features of the disease.ResultsSeventeen of the 23 patients studied had CTS. CTS was the first manifestation of the disease in 10 of 17 patients. On average, CTS symptoms occurred 10.4 years before their diagnosis of hATTR amyloidosis. In 6 of 10 patients with CTS, the following systemic symptoms were present as the first manifestation: erectile dysfunction, dysautonomia, polyneuropathy, exercise intolerance, and gastrointestinal and ocular symptoms.ConclusionCTS occurs in most patients with hATTR amyloidosis and frequently precedes the hATTR diagnosis. Most patients with CTS preceding hATTR diagnosis have systemic features. Recognizing systemic features at the time of CTS presentation may help in early diagnosis of hATTR amyloidosis.
AB - BackgroundHereditary transthyretin amyloidosis (hATTR) is associated with significant morbidity and mortality. Early diagnosis and treatment are essential to improve patient's outcome. Carpal tunnel syndrome (CTS) is a common complication of hATTR amyloidosis. However, because CTS is also common in the general population, we wanted to assess whether CTS, when associated with systemic manifestations, could help direct physicians to screen for TTR gene mutation and early diagnosis.MethodsWe reviewed the charts and interviewed the patients with hATTR seen between 2017 and 2018. We noted the details of CTS diagnosis, treatment, and other systemic features of the disease.ResultsSeventeen of the 23 patients studied had CTS. CTS was the first manifestation of the disease in 10 of 17 patients. On average, CTS symptoms occurred 10.4 years before their diagnosis of hATTR amyloidosis. In 6 of 10 patients with CTS, the following systemic symptoms were present as the first manifestation: erectile dysfunction, dysautonomia, polyneuropathy, exercise intolerance, and gastrointestinal and ocular symptoms.ConclusionCTS occurs in most patients with hATTR amyloidosis and frequently precedes the hATTR diagnosis. Most patients with CTS preceding hATTR diagnosis have systemic features. Recognizing systemic features at the time of CTS presentation may help in early diagnosis of hATTR amyloidosis.
UR - http://www.scopus.com/inward/record.url?scp=85074038896&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85074038896&partnerID=8YFLogxK
U2 - 10.1212/CPJ.0000000000000640
DO - 10.1212/CPJ.0000000000000640
M3 - Article
AN - SCOPUS:85074038896
SN - 2163-0402
VL - 9
SP - 309
EP - 313
JO - Neurology: Clinical Practice
JF - Neurology: Clinical Practice
IS - 4
ER -