Abdominal fat pad biopsies exhibit good diagnostic accuracy in patients with suspected transthyretin amyloidosis
- PDF / 1,482,575 Bytes
- 10 Pages / 595.276 x 790.866 pts Page_size
- 19 Downloads / 164 Views
pen Access
RESEARCH
Abdominal fat pad biopsies exhibit good diagnostic accuracy in patients with suspected transthyretin amyloidosis Hedvig Paulsson Rokke1, Nima Sadat Gousheh1, Per Westermark2, Ole B. Suhr1, Intissar Anan1,3, Elisabet Ihse2, Björn Pilebro1 and Jonas Wixner1*
Abstract Background: The 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 methods: Data 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. Results: Two 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. Conclusions: Abdominal 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. Keywords: Adipose tissue, Amyloid polyneuropathy, Amyloidosis, hereditary, Biopsy, Cardiomyopathy, restrictive, Techniques and procedures, diagnostic, Transthyretin
*Correspondence: [email protected] 1 Department of Public Health and Clinical Medicine, Umeå University, 901 87 Umeå, Sweden Full list of author information is available at the end of the article
Background Amyloidosis is an acquired or inherited condition caused by extracellular deposition of insoluble fibrillar protein (amyloid) that is formed by misfolded proteins
© The Author(s) 2020. Open Access This article is licensed under a Creative Commons At
Data Loading...
