Sökning: WFRF:(Ihse Elisabet 1977 ) >
Abdominal fat pad b...
Abdominal fat pad biopsies exhibit good diagnostic accuracy in patients with suspected transthyretin amyloidosis
-
- Paulsson Rokke, Hedvig (författare)
- Umeå universitet,Avdelningen för medicin,Umeå Univ, Dept Publ Hlth & Clin Med, S-90187 Umeå, Sweden.
-
- Sadat Gousheh, Nima (författare)
- Umeå universitet,Avdelningen för medicin,Umeå Univ, Dept Publ Hlth & Clin Med, S-90187 Umeå, Sweden.
-
- Westermark, Per (författare)
- Uppsala universitet,Klinisk och experimentell patologi
-
visa fler...
-
- Suhr, Ole B. (författare)
- Umeå universitet,Avdelningen för medicin,Umeå Univ, Dept Publ Hlth & Clin Med, S-90187 Umeå, Sweden.
-
- Anan, Intissar (författare)
- Umeå universitet,Molekylär Infektionsmedicin, Sverige (MIMS),Avdelningen för medicin,Umeå Univ, Dept Publ Hlth & Clin Med, S-90187 Umeå, Sweden.;Umeå Univ, Wallenberg Ctr Mol Med, Umeå, Sweden.
-
- Ihse, Elisabet, 1977- (författare)
- Uppsala universitet,Klinisk och experimentell patologi
-
- Pilebro, Björn (författare)
- Umeå universitet,Avdelningen för medicin,Umeå Univ, Dept Publ Hlth & Clin Med, S-90187 Umeå, Sweden.
-
- Wixner, Jonas (författare)
- Umeå universitet,Avdelningen för medicin,Umeå Univ, Dept Publ Hlth & Clin Med, S-90187 Umeå, Sweden.
-
visa färre...
-
(creator_code:org_t)
- 2020-10-08
- 2020
- Engelska.
-
Ingår i: Orphanet Journal of Rare Diseases. - : BioMed Central (BMC). - 1750-1172. ; 15:1
- Relaterad länk:
-
https://doi.org/10.1...
-
visa fler...
-
https://umu.diva-por... (primary) (Raw object)
-
https://ojrd.biomedc...
-
https://uu.diva-port... (primary) (Raw object)
-
https://urn.kb.se/re...
-
https://doi.org/10.1...
-
https://urn.kb.se/re...
-
visa färre...
Abstract
Ämnesord
Stäng
- 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.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Gastroenterologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Gastroenterology and Hepatology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Klinisk laboratoriemedicin (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Clinical Laboratory Medicine (hsv//eng)
Nyckelord
- Adipose tissue
- Amyloid polyneuropathy
- Amyloidosis
- hereditary
- Biopsy
- Cardiomyopathy
- restrictive
- Techniques and procedures
- diagnostic
- Transthyretin
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
Hitta via bibliotek
Till lärosätets databas