Authors
Mitsuharu Ueda
Published in
Brain and nerve = Shinkei kenkyu no shinpo. Volume 78. Issue 10. Pages 1107-1113.
Abstract
Transthyretin (TTR) amyloidosis, particularly the wild-type form (ATTRwt), is an age-related systemic disease characterized by the deposition of misfolded TTR in tendons and ligaments. Patients therefore frequently present initially to orthopaedic or hand surgeons with carpal tunnel syndrome (CTS) or lumbar spinal stenosis (LSS) rather than to cardiologists or neurologists. These musculoskeletal manifestations may precede ATTR cardiomyopathy (ATTR-CM) by several years to more than a decade, serving as "red flags" that provide an opportunity for early diagnosis, particularly now that disease-modifying therapies (the TTR stabilizers tafamidis and acoramidis and the silencer vutrisiran) are available and are most effective when initiated early. Amyloid is detectable in the flexor tenosynovium or transverse carpal ligament in approximately 10% of unselected patients with CTS and up to approximately 30% of routinely biopsied patients with CTS, and in the ligamentum flavum in approximately half of patients undergoing surgery for LSS, predominantly as ATTRwt. This review summarizes, from the perspective of orthopaedic-neurology collaboration, when to suspect amyloidosis in patients with CTS and LSS and how to proceed with the diagnostic work-up, including intraoperative tissue biopsy with Congo red staining and typing, mandatory exclusion of AL amyloidosis, bone scintigraphy using non-biopsy diagnostic criteria, and TTR genotyping with genetic counseling. The review incorporates recent evidence and our institutional experience.
PMID:
42864788
Bibliographic data and abstract were imported from PubMed on 13 Oct 2026.
Read full publication at:
Please sign in
to see all details.
Advertisement
Stats
- Recommendations n/a n/a positive of 0 vote(s)
- Views 9
- Comments 0