Carpal Tunnel Syndrome: A Marker for Amyloidosis  

作　　者：Luciana León Cejas Miguel Saucedo Mayra Aldecoa Gustavo Teruya Fabricio Silva Alvaro Muratore Gonzalo Viollaz Cintia Marchesoni Ana Pardal Pablo Dezanzo Alejandro Iotti Ricardo Reisin Luciana León Cejas;Miguel Saucedo;Mayra Aldecoa;Gustavo Teruya;Fabricio Silva;Alvaro Muratore;Gonzalo Viollaz;Cintia Marchesoni;Ana Pardal;Pablo Dezanzo;Alejandro Iotti;Ricardo Reisin(Neurology Department, Hospital Britnico de Buenos Aires, Buenos Aires, Argentina;Orthopedics Department, Hospital Britnico de Buenos Aires, Buenos Aires, Argentina;Pathology Department, Hospital Britnico de Buenos Aires, Buenos Aires, Argentina)

机构地区：[1]Neurology Department, Hospital Britnico de Buenos Aires, Buenos Aires, Argentina [2]Orthopedics Department, Hospital Britnico de Buenos Aires, Buenos Aires, Argentina [3]Pathology Department, Hospital Britnico de Buenos Aires, Buenos Aires, Argentina

出　　处：《World Journal of Neuroscience》2024年第3期92-101,共10页神经科学国际期刊（英文）

摘　　要：Introduction: Amyloidosis are systemic conditions and carpal tunnel syndrome (CTS) precedes the principal systemic complications and can be used as an early marker. Our objective was to determine the frequency of amyloid deposition in idiopathic CTS and its systemic impact. Methods: We retrospectively evaluated patients with CTS between September 2019 to January 2020. Samples from the anterior carpal ligament were pathologically evaluated and amyloid deposition was confirmed by apple-green birefringence on polarized light using Congo red stain. When amyloid was detected we performed genetic testing for transthyretin variants (ATTRv), immunofixation electrophoresis in serum and urine for light chains and multidisciplinary evaluation. Results: Thirty consecutive patients were included, 19 women, 11 men, mean age 70 years old (range 42 - 89 years). We identified 3 patients (10%) with amyloid deposits (mean age: 78.6 years, 2 men, 1 woman). Genetic testing for ATTRv and light chains studies were negative. During follow-up: The first patient required aortic valve replacement. The second patient developed progressive cardiac failure with syncopal episodes, atrioventricular block and atrial fibrillation and required a pacemaker and anticoagulation. The third patient had unexplained chronic edemas. The cardiac evaluation in all 3 patients revealed left ventricular hypertrophy and myocardial uptake (Perugini Score > 2) in their nuclear bone scintigraphies with technetium pyrophosphate. Two patients were treated with tafamidis and one patient died due to refractory cardiac insufficiency. Discussion: Our findings underline the importance of investigating amyloidosis in idiopathic CTS. The identification of deposits allows early diagnosis of cardiac amyloidosis leading to timely intervention and treatment.Introduction: Amyloidosis are systemic conditions and carpal tunnel syndrome (CTS) precedes the principal systemic complications and can be used as an early marker. Our objective was to determine the frequency of amyloid deposition in idiopathic CTS and its systemic impact. Methods: We retrospectively evaluated patients with CTS between September 2019 to January 2020. Samples from the anterior carpal ligament were pathologically evaluated and amyloid deposition was confirmed by apple-green birefringence on polarized light using Congo red stain. When amyloid was detected we performed genetic testing for transthyretin variants (ATTRv), immunofixation electrophoresis in serum and urine for light chains and multidisciplinary evaluation. Results: Thirty consecutive patients were included, 19 women, 11 men, mean age 70 years old (range 42 - 89 years). We identified 3 patients (10%) with amyloid deposits (mean age: 78.6 years, 2 men, 1 woman). Genetic testing for ATTRv and light chains studies were negative. During follow-up: The first patient required aortic valve replacement. The second patient developed progressive cardiac failure with syncopal episodes, atrioventricular block and atrial fibrillation and required a pacemaker and anticoagulation. The third patient had unexplained chronic edemas. The cardiac evaluation in all 3 patients revealed left ventricular hypertrophy and myocardial uptake (Perugini Score > 2) in their nuclear bone scintigraphies with technetium pyrophosphate. Two patients were treated with tafamidis and one patient died due to refractory cardiac insufficiency. Discussion: Our findings underline the importance of investigating amyloidosis in idiopathic CTS. The identification of deposits allows early diagnosis of cardiac amyloidosis leading to timely intervention and treatment.

关 键 词：Carpal Tunnel AMYLOID TRANSTHYRETIN Amyloid Cardiac Transthyretin Variants Light Chains 

分 类 号：R54[医药卫生—心血管疾病]