Combined subcutaneous fat aspirate and skin tru-cut biopsy for amyloid screening in patients with suspected systemic amyloidosis

Charlotte Toftmann Hansen, Hanne E.H. Møller, Aleksandra Maria Rojek, Niels Marcussen, Hans Christian Beck, Niels Abildgaard*

*Corresponding author for this work

Research output: Contribution to journalJournal articleResearchpeer-review

Abstract

Screening for systemic amyloidosis is typically carried out with abdominal fat aspirates with varying reported sensitivities. Fat aspirates are preferred for use in primary screening instead of organ biopsies as they are less invasive and thereby minimize the potential risk of complications. At Odense Amyloidosis Center, we performed a prospective study on whether the combined use of fat aspirate and tru-cut skin biopsy could increase the diagnostic sensitivity. Both fat aspirates and skin biopsies were screened with Congo Red staining, and positive biopsies were subsequently subtyped using immunoelectron microscopy and mass spectrometry. Seventy-six patients were included. In total, 24 patients had systemic amyloidosis (11 AL, 12 wtATTR, 1 AA), and 6 patients had localized amyloidosis. Combined fat aspirate and skin biopsy were Congo Red-positive in 15 patients (overall sensitivity (OS) 62.5%). Fat aspirates were positive in 14 patients (OS 58.3%), and the skin biopsy was positive in 5 patients (OS 20.8%). In only one patient did the skin biopsy add extra diagnostic information. The sensitivity differed between AL and ATTR amyloidosis—81.8% and 41.7%, respectively. Using skin biopsy as the only screening method is not recommended.

Original languageEnglish
Article number3649
JournalMolecules
Volume26
Issue number12
Number of pages7
ISSN1420-3049
DOIs
Publication statusPublished - 15. Jun 2021

Keywords

  • Amyloid screening
  • Fat aspirates
  • Skin biopsies

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