Duodenal amyloidosis: a clinical case

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Abstract

BACKGROUND: Amyloidosis is a chronic systemic disease that, in some cases, affects the organs of the gastrointestinal tract.

CLINICAL CASE DESCRIPTION: A 62-year-old patient complained of painless enlargement of the lymph nodes in the supraclavicular region on the left side according to the puncture biopsy of the lymph node — reactive lymphoid hyperplasia. During the examination, duodenal amyloidosis was accidentally detected. The results of additional studies to determine the type of amyloid were nonspecific. The patient refused to continue the examination.

CONCLUSION: This clinical case of duodenal amyloidosis is unusual and clearly demonstrates the difficulties of diagnosis, including the absence of a clinic and the nonspecificity of the endoscopic and radiological picture during the examination. In addition, the absence of an established chronic disease characteristic of amyloid A amyloidosis and the results of laboratory and instrumental research methods, excluding amyloid light chain amyloidosis and transthyretin amyloidosis, emphasise the main role of clinicians in diagnosing the underlying disease.

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About the authors

Olga V. Teplyakova

Medical Association «New Hospital»; Ural State Medical University

Author for correspondence.
Email: oteplyakova69@gmail.com
ORCID iD: 0000-0003-2114-0419
SPIN-code: 3208-8679

MD, Dr. Sci. (Medicine), professor

Russian Federation, Yekaterinburg; Yekaterinburg

Evgeniya A. Kharina

Ural State Medical University

Email: harina-str@mail.ru
ORCID iD: 0009-0001-6540-7237
SPIN-code: 5074-5089
Russian Federation, Yekaterinburg

Olga B. Balueva

Medical Association «New Hospital»

Email: balueva_olga@list.ru
ORCID iD: 0000-0001-7252-6317
SPIN-code: 2385-8580
Russian Federation, Yekaterinburg

Alyona N. Chernikova

Ural State Medical University

Email: alyona.chernicova2014@yandex.ru
ORCID iD: 0009-0000-7482-5492
SPIN-code: 6136-2323
Russian Federation, Yekaterinburg

Galina I. Shlikova

Medical Association «New Hospital»

Email: g-i-shlykova@mail.ru
ORCID iD: 0009-0003-7948-0798
Russian Federation, Yekaterinburg

References

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  2. Solonitsyn EG, Alieva IuSh, Seyfedinova SSh, et al. Amyloidosis of the gastrointestinal tract. Clinical cases. Russian Journal for Personalized Medicine. 2021;1(1):237–253. EDN: VPHHZO
  3. Bakulina NV, Nekrasova AS, Gudkova AYa, et al. Systemic amyloidosis: clinical manifestations and diagnosis. Jeffektivnaja farmakoterapija. 2020;16(24):68–76. EDN: YUXXON doi: 10.33978/2307-3586-2020-16-24-68-76
  4. Gubergrits NB, Byelyayeva NV, Mozhynа TL, Rakhmetova VS. Modern concepts of primary systemic AL-amyloidosis: the viewpoint of a gastroenterologist. Experimental and Clinical Gastroenterology Journal. 2021;(12):83–93. EDN: ECXYRK doi: 10.31146/1682-8658-ecg-196-12-83-93
  5. Iida T, Yamano H, Nakase H. Systemic amyloidosis with gastrointestinal involvement: diagnosis from endoscopic and histological views. J Gastroenterol Hepatol. 2018;33(3):583–590. doi: 10.1111/jgh.13996
  6. Muchtar E, Dispenzieri A, Magen H, et al. Systemic amyloidosis from A (AA) to T (ATTR): a review. J Intern Med. 2021;289(3):268–292. doi: 10.1111/joim.13169
  7. Anikonova LI, Vorobyeva OA, Bakulina NV. ATTR-amyloidosis — a systemic disease involving the kidneys. Nephrologу and Dialуsis. 2022;24(3):441–456. EDN: NPMSVG doi: 10.28996/2618-9801-2022-3-441-456
  8. Tereshchenko SN, Zhirov IV, Moiseeva OM, et al. Practical guidelines for the diagnosis and treatment of transthyretin amyloid cardiomyopathy (ATTR-CM or transthyretin cardiac amyloidosis). Terapevticheskii arkhiv. 2022;94(4):584–595. EDN: DYWRYZ doi: 10.26442/00403660.2022.04.201465
  9. Reznik EV, Nguyen TL, Ustyuzhanin DV, et al. Red flags to diagnose infiltrative cardiomyopathies. Russian Journal of Cardiology. 2023;28(S1):40–51. EDN: ZGFWNJ doi: 10.15829/1560-4071-2023-5259
  10. Strelkova IE. A new era in the treatment of cardiac amyloidosis: an overview of the Congress of cardiology. Lechaschi vrach. 2021;(12):90–94. EDN: RNZYNI doi: 10.51793/OS.2021.24.12.013
  11. Naumova ES, Nikitin SS, Adyan TA, et al. Misdiagnosed case of TTR amyloidosis in a fully investigated patient. Neuromuscular Diseases. 2018;8(1):46–52. EDN: YWZNFS doi: 10.17650/2222-8721-2018-8-1-46-52

Supplementary files

Supplementary Files
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1. JATS XML
2. Fig. 1. Amyloidosis of the duodenum. White light examination on the OLYMPUS CV 150 video system, OLYMPUS GIF 150 video gastroscope: a — a formation protruding above the duodenal mucosa in the form of deposits of a yellow substance, localized in the bulbo-duodenal junction; with instrumental «palpation», the mucosa with reduced elasticity slightly shifts along with the formation; b–d — mucous membrane of the descending branch of the duodenum with signs of multifocal lesions in the form of multiple foci-deposits of yellow color in the mucous membrane.

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3. Fig. 2. Results of histological examination: a, b — hematoxylin-eosin stain, ×400; c, d — hematoxylin-eosin stain, ×1000.

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4. Fig. 3. Algorithm for diagnosing amyloidosis. ОФЭКТ — single-photon emission computed tomography.

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