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Updated: Oct 28, 2025

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Association between spinal stenosis and wild-type ATTR amyloidosis
Amandeep Godara1,2, Ron I Riesenburger3, Diana X Zhang4
1John Conant Davis Myeloma and Amyloid Program, Tufts Medical Center, Boston, MA, USA.
Wild-type transthyretin amyloid (ATTRwt) deposits in spinal stenosis ligamentum flavum were found in 13% of patients. This suggests ATTRwt may indicate systemic amyloidosis and cardiac risk, warranting further investigation.
Area of Science:
- Cardiovascular Medicine
- Neurology
- Rheumatology
Background:
- Age-related cardiac amyloidosis is linked to wild-type transthyretin amyloid (ATTRwt) deposits.
- ATTRwt may be associated with carpal tunnel syndrome (CTS) and spinal stenosis (SS), potentially indicating systemic amyloidosis.
Purpose of the Study:
- To investigate ATTR deposition in ligamentum flavum (LF) during spinal stenosis surgery.
- To assess the risk of concomitant cardiac amyloidosis in these patients.
Main Methods:
- Surgical LF specimens were Congo red stained and amyloid typed by mass spectrometry.
- Patients with positive specimens underwent comprehensive cardiac amyloidosis workup, including imaging and genetic testing.
Main Results:
- ATTRwt was identified in 13% (43/324) of patients undergoing surgery for SS.
- Two cases of ATTRwt cardiac amyloidosis were diagnosed and treated.
- Amyloid-positive patients were older and had a higher prevalence of CTS.
Conclusions:
- ATTRwt is prevalent in the LF of patients with SS, suggesting a systemic connective tissue involvement.
- Spinal stenosis may serve as a screening opportunity for systemic ATTR amyloidosis and associated cardiac risks.
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