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2017 ; 12
(9
): e0185078
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English Wikipedia
Utility of abdominal skin plus subcutaneous fat and rectal mucosal biopsy in the
diagnosis of AL amyloidosis with renal involvement
#MMPMID28926601
Li T
; Huang X
; Cheng S
; Zhao L
; Ren G
; Chen W
; Wang Q
; Zeng C
; Liu Z
PLoS One
2017[]; 12
(9
): e0185078
PMID28926601
show ga
OBJECTIVES: Skin fat biopsy of the abdominal wall is a simple and safe method for
detecting amyloidosis, and rectal mucosal biopsy is also frequently used for
screening for the disease; however, the sensitivity of these approaches has not
been fully studied. The aim of this study was to evaluate the efficacy of skin
fat biopsy combined with rectal mucosal biopsy as a screening procedure for the
diagnosis of systemic immunoglobulin light-chain (AL) amyloidosis. METHODS: We
retrospectively analyzed 224 AL amyloidosis patients confirmed by renal biopsy,
including a test group of 165 patients and validation group of 59 patients.
Surgical skin fat biopsy from the abdominal wall and rectal mucosal biopsy under
endoscopy was performed to obtain specimens. Congo red staining and
immunofluorescence staining with antibodies against light chains were performed
to type the disease. Pathology reports were reviewed to assess the diagnostic
sensitivity of skin fat biopsy and rectal mucosal biopsy. Diagnostic specificity
was not examined in the present study, because no healthy volunteers and only few
patients with other diseases had performed immunofluorescence staining on skin
fat and rectal specimens. RESULTS: Of the 165 patients in the test group, Congo
red staining of skin fat and rectal mucosal specimens was associated with a
sensitivity of 89.3% and 94.8%, respectively. The sensitivity increased to 98.9%
by combining both biopsy methods. Immunofluorescence stains were positive in
81.1% of patients undergoing skin fat biopsy and 84.7% of patients undergoing
rectal mucosal biopsy. Immunofluorescence stains yielded positive results in
86.7% of cases combining skin fat biopsy with rectal mucosal biopsy. The
diagnostic results also performed well in the validation group. CONCLUSIONS:
Surgical skin biopsy including the subcutaneous fat pad can be performed safely
at the bedside and is useful for diagnosing AL amyloidosis. Combining skin fat
biopsy with rectal mucosal biopsy may identify amyloid deposits in almost all
patients, and a negative result of both biopsies makes the diagnosis very
unlikely.