Early Amyloid Diagnosis and Treatment: Experience of Single Hand Surgeon With a Series of 182 Carpal Tunnel Biopsies.

Abstract

Background: Amyloidosis is a systemic disease characterized by buildup of abnormal amyloid deposits that may lead to multiple organ failure and is associated with early onset musculoskeletal manifestations. Orthopedic surgeons are positioned to aid with early diagnosis in the form of a biopsy which allows for workup for other areas of disease, specifically cardiac manifestations, and intervention prior to irreversible cardiac damage. In this review, we describe the biopsy results of a series of 182 patients and workup and treatment of the 46 amyloid positive patients biopsied by a single surgeon during a 4-year period.

Methods: We retrospectively reviewed biopsy results from 2019 to 2024 for all patients who met criteria for biopsy at time of open carpal tunnel release (CTR). All surgeries were performed by a single surgeon at a single academic institution. Patient selection was based on a previously published algorithm.

Results: Forty-six (25.3%) of 182 patients who underwent CTR and met criteria for biopsy were found to test positive on Congo red staining and liquid chromatography tandem mass spectrometry. All 46 patients were referred to cardiology for evaluation. Thirty-three patients completed cardiology evaluation and 32 of those patients were started on treatment as a result of testing.

Conclusions: The incidence of amyloid positive biopsy results was 25.3% in a single surgeon, single institution study using currently accepted screening criteria. All positive patients were referred for cardiac imaging and evaluation to obtain early diagnosis of amyloid cardiomyopathy and initiate treatment if indicated. A significant portion of patients referred to cardiology (58%) were started on pharmacological management as a result.

Level of evidence: Retrospective cohort study, II, prognostic.