Abstract
Objective
To evaluate the real-life use of a modified Gillmore algorithm with a "one-stop-shop”
approach, bone scintigraphy (BS), a monoclonal gammopathy test (GT), a salivary gland
biopsy (SGB), and genetic testing performed at the same time for the diagnosis of
cardiac amyloidosis at the French National Reference Centre for Cardiac Amyloidosis
(Henri Mondor Hospital, Créteil, France).
Methods
This retrospective cohort study included a total of 1222 patients with suspected amyloidosis
who underwent BS and GT between June 2008 and May 2019.
Results
Of 1222 patients, 349 had no cardiac uptake on BS and negative GT (BS−/GT−), 276 were
BS−/GT positive (GT+), 420 patients were BS+/GT−, and 177 were BS+/GT+. Our one-stop-shop
check-up enabled us to diagnose 892 (72.9%) patients; 330 (27.0%) patients required
additional examinations, such as mass spectrometry and/or a cardiac biopsy. This subset
notably included 112 patients with amyloid light chain amyloidosis. More than 64%
of the patients with transthyretin amyloidosis or another type of amyloidosis were
diagnosed during the one-stop shop visit. Sensitivity and specificity of BS for transthyretin
amyloidosis diagnosis was 99% and 96%, respectively. For amyloid light chain diagnosis,
sensitivity and specificity were 100% and 76%, respectively, for GT and 54% and 100%,
respectively, for SGB. Of 910 transthyretin genetic tests, 205 (17%) detected mutations.
Conclusion
The results of our real-life cohort study confirmed the ability of a one-stop-shop
approach with a modified Gillmore algorithm to diagnose cardiac amyloidosis and the
interest of simultaneous testing for earlier diagnosis. The SGB has diagnostic value
because it is easy, quick, and less invasive than a cardiac biopsy.
Graphical abstract
Graphical Abstract
Abbreviations and Acronyms:
AL (amyloid light chain), ATTR (transthyretin amyloidosis), BS (bone scintigraphy), CA (cardiac amyloidosis), GT (gammopathy test), SGB (salivary gland biopsy), TTR (transthyretin)To read this article in full you will need to make a payment
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Article info
Publication history
Published online: December 02, 2022
Footnotes
For editorial comment, see page 7
Grant Support: The French National Reference Centre for Cardiac Amyloidosis (Henri Mondor Hospital, Créteil, France) has received an institutional grant from Pfizer.
Identification
Copyright
© 2022 Mayo Foundation for Medical Education and Research. Published by Elsevier Inc. All rights reserved.
ScienceDirect
Access this article on ScienceDirectLinked Article
- Decreasing Door-to-Diagnosis Time in Cardiac Amyloidosis: A Simple “One-Stop Shop” ApproachMayo Clinic ProceedingsVol. 98Issue 1
- PreviewCardiac amyloidosis (CA) remains a challenging disease to detect and to diagnose. Recent advancements in treatment necessitate more rapid diagnosis so that treatment can be initiated as early as possible. In this issue of Mayo Clinic Proceedings, Bézard et al1 report on the real-life evaluation of an algorithm for the diagnosis of CA. The authors propose a “one-stop shop” approach to the diagnosis of CA by performing 4 tests simultaneously at the first day of a visit: serum and urine screening for monoclonal protein (MCP), nuclear cardiac scintigraphy, salivary gland biopsy, and DNA TTR testing.
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