Connective tissue amyloidosis in patients referred for orthopedic surgery. CONNECT-AMY study

Gonzalo Barge-Caballero , Alicia Freire-Ruaño , Alba González-Rodríguez , Juan M. Villa-Fernández , Jorge Pombo-Otero , María G. Crespo-Leiro
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Abstract

Introduction and objective

Clinical manifestations secondary to amyloid deposition in connective tissue may allow early detection of amyloidosis. We sought to identify the prevalence of connective tissue amyloidosis in patients undergoing orthopedic surgery and evaluate for cardiac involvement.

Material and methods

Descriptive cross-sectional study that included patients >50 years referred for orthopedic surgery at our center. A sample of the affected connective tissue was taken during the intervention to evaluate the presence of amyloid material. Those with confirmed amyloidosis were further evaluated with complementary tests for cardiac involvement.

Results

Forty-eight patients were included. Mean age was 65.4 years and 41.7% were women. The most frequent surgery was supraspinatus tendon rupture (50%). Transthyretin amyloid deposits were detected in 2 patients (4.2%). The absence of variants in the protein gene established the diagnosis of ATTRwt in both cases. None of them presented cardiac involvement.

Conclusions

In this study, 4.2% of patients referred for orthopedic surgery presented transthyretin amyloidosis in the affected connective tissue.
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骨科手术转诊患者中的结缔组织淀粉样变性。CONNECT-AMY 研究
导言和目的结缔组织中淀粉样蛋白沉积所继发的临床表现可早期发现淀粉样变性。我们试图确定接受骨科手术的患者中结缔组织淀粉样变性的患病率,并评估是否累及心脏。在手术过程中对受影响的结缔组织进行取样,以评估是否存在淀粉样物质。对确诊为淀粉样变性的患者进一步进行心脏受累辅助检查。平均年龄为 65.4 岁,41.7% 为女性。最常见的手术是冈上肌腱断裂(50%)。有2名患者(4.2%)检测到转甲状腺素淀粉样蛋白沉积。这两例患者的蛋白质基因均无变异,因此被确诊为 ATTRwt。结论在这项研究中,4.2%的骨科手术转诊患者受影响的结缔组织中存在经酪氨酸淀粉样变性。
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