ArticleOrphanet journal of rare diseases2020
Abdominal fat pad biopsies exhibit good diagnostic accuracy in patients with suspected transthyretin amyloidosis.
Article in Orphanet journal of rare diseases, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 38 citations in OpenAlex.
- Disrupted glutathione homeostasis in the pathogenesis of TTR-V30M amyloidosis.Biomarker research · 2026Article
- Systemic Amyloidosis With Probable Cardiac Involvement: Diagnostic Approach in a Resource-Limited Setting: A Case Report.Clinical case reports · 2026Article
- Tissue Screening and Diagnosis of Transthyretin Amyloid Cardiomyopathy.Reviews in cardiovascular medicine · 2026Review
- Structures of dye-bound transthyretin amyloid fibrils from abdominal fat biopsies.Nature communications · 2026Article
- Cardiac phenotype in hereditary transthyretin amyloidosis: correlations between fibril types and 99mTc-DPD uptake.Scientific reports · 2026Article
- Bridging the Gap in AL and ATTR Cardiac Amyloidosis: Integrating Histopathology, Biomarkers, and Multimodal Imaging for Subtype-Specific Diagnosis.Reviews in cardiovascular medicine · 2026Review
- Adiposome Proteomics Uncover Molecular Signatures of Cardiometabolic Risk in Obese Individuals.Proteomes · 2025Article
- Minimal invasive biopsies are highly sensitive for amyloid detection in hereditary transthyretin amyloidosis with polyneuropathy.Journal of the peripheral nervous system : JPNS · 2025Article
- Digestive Amyloidosis Trends: Clinical, Pathological, and Imaging Characteristics.Biomedicines · 2024Review
- Pilot Study on the Use of Attenuated Total Reflectance-Fourier Transform Infrared Spectroscopy for Diagnosing and Characterizing Cardiac Amyloidosis.International journal of molecular sciences · 2024Article
- The Gly103Arg variant in hereditary transthyretin amyloidosis.Frontiers in neurology · 2024Article
- Optimal practices for the management of hereditary transthyretin amyloidosis: real-world experience from Japan, Brazil, and Portugal.Orphanet journal of rare diseases · 2023Review
- Extensive Amyloid Purpura: An Unusual Presentation of Myeloma-associated Light Chain Amyloidosis.Acta dermato-venereologica · 2023Article
- Does [99mTc]-3,3-diphosphono-1,2-propanodicarboxylic acid (DPD) soft tissue uptake allow the identification of patients with the diagnosis of cardiac transthyretin-related (ATTR) amyloidosis with higher risk for polyneuropathy?Journal of nuclear cardiology : official publication of the American Society of Nuclear Cardiology · 2023Article
- Cutaneous amyloid is a biomarker in early ATTRv neuropathy and progresses across disease stages.Annals of clinical and translational neurology · 2022Article
- RWT/SaVR-A Simple and Highly Accurate Measure Screening for Transthyretin Cardiac Amyloidosis.Journal of clinical medicine · 2022Article
- Magnetic Resonance Imaging in Cardiac Amyloidosis: Unraveling the Stealth Entity.The International journal of angiology : official publication of the International College of Angiology, Inc · 2022Article
- Tissue-based diagnosis of systemic amyloidosis: Experience of the informal diagnostic center at Uppsala University Hospital.Upsala journal of medical sciences · 2022Article
- Wild-Type Transthyretin Amyloidosis in Female Patients - Consideration of Sex Differences.Circulation reports · 2021Article
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe diagnostic accuracy of histopathological detection of transthyretin amyloid (ATTR) by Congo red staining of abdominal fat samples has been questioned since low sensitivity has been reported, especially for patients with ATTR cardiomyopathy. However, the outcome of surgically obtained fat pad biopsies has not yet been evaluated. The aim was to evaluate the diagnostic accuracy of skin punch biopsies from abdominal fat in patients with suspected ATTR amyloidosis. MATERIAL AND
methodsData were evaluated from patients who had undergone abdominal fat pad biopsies using a skin punch due to suspected amyloidosis from 2006 to 2015. The biopsies had been analysed using Congo red staining to determine the presence of amyloid, and immunohistochemistry or Western blot to determine the type of amyloidosis. The final diagnosis was based on the clinical picture, biopsy results and DNA sequencing. Minimum follow-up after the initial biopsy was 3 years.
resultsTwo hundred seventy-four patients (61% males) were identified, and in 132 (48%), a final diagnosis of amyloidosis had been settled. The majority (93%) had been diagnosed with hereditary transthyretin (ATTRv) amyloidosis, and therefore subsequent analyses were focused on these patients. Overall, our data showed a test specificity of 99% and a sensitivity of 91%. Ninety-eight (94%) of the patients had neuropathic symptoms at diagnosis, whereas 57 (55%) had signs of amyloid cardiomyopathy. Subgroup analyses showed that patients with merely neuropathic symptoms displayed the highest test sensitivity of 91%, whereas patients with pure cardiomyopathy displayed the lowest sensitivity of 83%. However, no significant differences in sensitivity were found between patients with or without cardiomyopathy or between the sexes.
conclusionsAbdominal fat pad biopsies exhibit good diagnostic accuracy in patients with suspect ATTRv amyloidosis, including patients presenting with cardiomyopathy. In addition, the method enables typing not only of the precursor protein but also of the amyloid fibril type, which is related to the phenotype and to the outcome of the disease.
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