Combined Subcutaneous Fat Aspirate and Skin Tru-Cut Biopsy for Amyloid Screening in Patients with Suspected Systemic Amyloidosis |
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| Authors: | Charlotte Toftmann Hansen Hanne E H Mller Aleksandra Maria Rojek Niels Marcussen Hans Christian Beck Niels Abildgaard |
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| Institution: | 1.Odense Amyloidosis Center, Odense University Hospital, 5000 Odense, Denmark; (C.T.H.); (H.E.H.M.); (A.M.R.); (N.M.); (H.C.B.);2.Department of Hematology, Odense University Hospital, 5000 Odense, Denmark;3.Department of Pathology, Odense University Hospital, 5000 Odense, Denmark;4.Department of Clinical Biochemistry and Pharmacology, Odense University Hospital, 5000 Odense, Denmark |
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| 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. |
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| Keywords: | amyloid screening fat aspirates skin biopsies |
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