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Carpal Tunnel Syndrome: A Marker for Amyloidosis

World Journal of Neuroscience 2024年第3期14卷 92-101页

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 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

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

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