ArticlePloS one2017
Utility of abdominal skin plus subcutaneous fat and rectal mucosal biopsy in the diagnosis of AL amyloidosis with renal involvement.
Article in PloS one, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 13 papers, 2 of them syntheses that pooled it.
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Who cites it
13 citing papers in PubMed, 2 syntheses or guidelines pooled it, 29 citations in OpenAlex.
- American Society of Hematology 2026 guidelines on diagnosis of light chain amyloidosis.Blood advances · 2026Guideline
- Diffuse parenchymal pulmonary amyloidosis associated with multiple myeloma: a case report and systematic review of the literature.BMC cancer · 2018Pooled it
- Rare case of young cardiac amyloidosis: difficult diagnostic pathway in routine clinical care.European heart journal. Case reports · 2026Article
- Membranous nephropathy concurrent with renal amyloidosis: a six-patient report and literature review.Renal failure · 2025Review
- Thoracic Fat Pad Biopsy in Cardiac Amyloidosis: Diagnostic Yield in an Afro-Caribbean Population.Journal of clinical medicine · 2025Article
- Digestive Amyloidosis Trends: Clinical, Pathological, and Imaging Characteristics.Biomedicines · 2024Review
- Diagnosis for Chinese patients with light chain amyloidosis: a scoping review.Annals of medicine · 2023Article
- Part I: Cutaneous manifestations of cardiovascular disease.Journal of the American Academy of Dermatology · 2023Review
- AB-Amy: machine learning aided amyloidogenic risk prediction of therapeutic antibody light chains.Antibody therapeutics · 2023Article
- Genetic pathogenesis of immunoglobulin light chain amyloidosis: basic characteristics and clinical applications.Experimental hematology & oncology · 2021Review
- Negative Fat Pad Biopsy in Systemic AL: A Case Report Analyzing the Preferred Amyloidosis Screening Test.Diseases (Basel, Switzerland) · 2021Article
- Immunoglobulin Light-Chain Amyloidosis: Clinical Presentations and Diagnostic Approach.Journal of the advanced practitioner in oncology · 2019Review
- Article
Corrections and comments
- Erratum issued
Authors and funding
9 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivesSkin 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.
methodsWe 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.
resultsOf 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.
conclusionsSurgical 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.
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