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The value of screening biopsies in light chain (AL) and transthyretin (ATTR) amyloidosis

Cohen, OC; Sharpley, F; Gilbertson, JA; Wechalekar, AD; Sachchithanantham, S; Mahmood, S; Whelan, CJ; ... Gillmore, JD; + view all (2020) The value of screening biopsies in light chain (AL) and transthyretin (ATTR) amyloidosis. European Journal of Haematology , 105 (3) pp. 352-356. 10.1111/ejh.13458. Green open access

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Abstract

INTRODUCTION: Systemic amyloidosis is a histological diagnosis, often achieved via critical organ biopsy. Screening biopsies represent a low-risk approach to diagnosis. OBJECTIVES AND METHODS: All patients with systemic AL and ATTR amyloidosis who underwent abdominal fat aspiration (AFA) and either a bone marrow (BM) or gastrointestinal (GI) biopsy at the UK National Amyloidosis Centre (2006-2019) were identified. We sought to determine diagnostic sensitivity in relation to whole body amyloid burden, amyloid type, and organ involvement RESULTS: Diagnostic sensitivity, established in 471 patients with AL (n=321) and ATTR (n=150) amyloidosis respectively was 73.2% and 27.3% for AFA (p< 0.001), 59.7% and 42.2% for BM (p< 0.001), 74.6% and 44.6% for GI biopsy (p< 0.001). ATTR amyloid deposits were detected in 35.4% BMs and 33.3% of GI biopsies when AFA did not demonstrate amyloid. In AL amyloidosis, sensitivity of combined AFA and BM biopsy in AL amyloidosis was 82.9%. There was a strong association between whole body amyloid burden and sensitivity of each screening biopsy method. The diagnostic sensitivity of screening biopsies ranged from 80.0-90.5% for patients with a large amyloid load on 123 I-SAP scintigraphy in comparison to 53.9-79.0% in those with no visceral amyloid visible on imaging. CONCLUSION: Performing both AFA and BMB should be considered in suspected AL amyloidosis to substantially reduce the clinical risk associated with critical organ biopsy. The sensitivity of screening biopsies in ATTR amyloidosis is poor.

Type: Article
Title: The value of screening biopsies in light chain (AL) and transthyretin (ATTR) amyloidosis
Location: England
Open access status: An open access version is available from UCL Discovery
DOI: 10.1111/ejh.13458
Publisher version: https://doi.org/10.1111/ejh.13458
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: amyloidosis, biopsy, diagnosis, fat aspirate, histology
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine > Inflammation
URI: https://discovery.ucl.ac.uk/id/eprint/10100914
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