Amyloid goiter: difficulties of differential diagnosis, choice of treatment tactics
https://doi.org/10.14341/ket12797
Abstract
Amyloid goiter is an orphan disease characterized by the deposition of amyloid proteins in the thyroid parenchyma, which can be the result of both localized primary deposition and secondary, against the background of persistent chronic inflammatory disease. The diagnosis is made through imaging techniques and histological examination of thyroid tissue. Depending on the degree of enlargement of the thyroid gland, the presence of hypothyroidism, as well as compression syndrome, therapeutic tactics are reduced to dynamic observation, the achievement of an euthyroid state, and in case of a pronounced cosmetic defect and / or tracheal compression, surgical intervention. Histochemical staining of the resected drug is necessary to make a definitive diagnosis. The prognosis is generally favorable, but it depends on the underlying cause of amyloid deposition and the degree of thyroid damage. In this clinical case, we describe a 36-year-old patient with periodic disease, AA-amyloidosis with predominant kidney damage, after kidney allotransplantation due to a history of end-stage chronic kidney disease. The patient contacted the center with complaints of difficulty breathing, swallowing, during examination, the thyroid gland is enlarged in size, according to ultrasound data, specific changes in the thyroid gland indicate the amyloid genesis of goiter. According to the hormonal examination, it is euthyroidism. According to the cytological examination of a thyroid biopsy: extracellular deposits of a dense structureless substance colored red-brown, most corresponding to the deposition of amyloid, were found in smears of liquid cytology when stained with congo red.
About the Authors
S. M. DeunezhewaRussian Federation
Salima M. Deunezhewa - MD, postgraduate student.
11 Dm.Ulyanova street, 117036 Moscow
Competing Interests:
None
L. K. Dzeranova
Russian Federation
Larisa K. Dzeranova - MD, PhD.
Moscow
Competing Interests:
None
M. A. Perepelova
Russian Federation
Margarita A. Perepelova - MD, postgraduate student.
Moscow
Competing Interests:
None
A. S. Shutova
Russian Federation
Aleksandra S. Shutova - MD.
Moscow
Competing Interests:
None
E. A. Pigarova
Russian Federation
Ekaterina A. Pigarova - MD, PhD.
Moscow
Competing Interests:
None
T. V. Soldatova
Russian Federation
Tatiana V. Soldatova - MD, PhD.
Moscow
Competing Interests:
None
E. V. Bondarenko
Russian Federation
Ekaterina V. Bondarenko - MD, PhD.
Moscow
Competing Interests:
None
Ya. V. Dvoryanchikov
Russian Federation
Yaroslav V. Dvoryanchikov - MD, postgraduate student.
Moscow
Competing Interests:
None
A. A. Mikheenkov
Russian Federation
Alexander A. Mikheenkov - MD.
Moscow
Competing Interests:
None
A. U. Abrosimov
Russian Federation
Alexandr U. Abrosimov - MD, PhD, Professor.
Moscow
Competing Interests:
None
E. A. Troshina
Russian Federation
Ekaterina A. Troshina - MD, PhD, professor.
Moscow
Competing Interests:
None
References
1. UpToDate. www.uptodate.com. https://www.uptodate.com/contents/overview-of-amyloidosis?sectionName=CLINICAL%20MANIFESTATIONS&topicRef=5588&anchor=H10&source=see_link#H10
2. Lari E, Burhamah W, Lari A, Alsafran S, Ismail A. Amyloid goiter - A rare case report and literature review. Annals of Medicine and Surgery. 2020;57:295-298. doi: https://doi.org/10.1016/j.amsu.2020.08.004
3. Siddiqui M, Gertz MA, Dean DS. Amyloid Goiter as a Manifestation of Primary Systemic Amyloidosis. Thyroid. 2007;17(1):77-80. doi: https://doi.org/10.1089/thy.2006.0045
4. Jakubović-Čičkušić A, Hasukić B, Sulejmanović M, Čičkušić A, Hasukić Š. Amyloid Goiter: A Case Report and Review of the Literature. Saudi journal of medicine & medical sciences. 2020;8(2):151-155. doi: https://doi.org/10.4103/sjmms.sjmms_308_19
5. Di Crescenzo V, Garzi A, Petruzziello F, et al. Nodular goiter with amyloid deposition in an elderly patient: fine-needle cytology diagnosis and review of the literature. BMC Surgery. 2013;13(Suppl 2):S43. doi: https://doi.org/10.1186/1471-2482-13-s2-s43
6. Рубрикатор КР. cr.minzdrav.gov.ru. Accessed December 17, 2023. Доступно по: https://cr.minzdrav.gov.ru/schema/757_1
7. Familial Mediterranean Fever - Pediatrics. MSD Manual Professional Edition. Accessed December 17, 2023. Available at: https://www.msdmanuals.com/professional/pediatrics/hereditary-periodic-fever-syndromes/familial-mediterranean-fever?query=familial-mediterranean-fever
8. Park YH, Remmers EF, Lee W, et al. Ancient familial Mediterranean fever mutations in human pyrin and resistance to Yersinia pestis. Nature Immunology. 2020;21(8):857-867. doi: https://doi.org/10.1038/s41590-020-0705-6
9. TUFAN A, LACHMANN HJ. Familial Mediterranean fever, from pathogenesis to treatment: a contemporary review. TURKISH JOURNAL OF MEDICAL SCIENCES. 2020;50(7):1591-1610. doi: https://doi.org/10.3906/sag-2008-11
10. Jeladharan R, Singh A, Jat B, Phulware RH. An unilateral rapidly growing amyloid goiter associated with osteopetrosis: a Case Report and Literature Review. Research Square (Research Square). Published online April 27, 2023. doi: https://doi.org/10.21203/rs.3.rs-2780216/v1
11. UpToDate. www.uptodate.com. https://www.uptodate.com/contents/treatment-of-aa-secondary-amyloidosis
12. Georgin‐Lavialle S, Savey L, Buob D, et al. French practical guidelines for the diagnosis and management of AA amyloidosis. La Revue de Médecine Interne. 2023;44(2):62-71. doi: https://doi.org/10.1016/j.revmed.2022.12.004
13. Ahmed Khan Z, Ahmad S, Williams R, Gnanasambandam K, Lakshminarayanan M. Co-occurrence of Amyloid Goiter and Adipose Metaplasia in a Patient With History of Pulmonary Tuberculosis: A Case Report. Cureus. March 2023. doi: https://doi.org/10.7759/cureus.36008
14. Yildiz L, Kefeli M, Kose B, Baris S. Amyloid goiter: two cases and a review of the literature. Ann Saudi Med. 2009;29(2):138-141. doi: https://doi.org/10.4103/0256-4947.51808
15. Kimura H, Yamashita S, Ashizawa K, Yokoyama N, Nagataki S. Thyroid dysfunction in patients with amyloid goitre. Clinical Endocrinology. 1997;46(6):769-774. doi: https://doi.org/10.1046/j.1365-2265.1997.1841000.x
16. Bakulina NV, Nekrasova AS, Gudkova AYa, et al. Systemic Amyloidosis: Clinical Manifestations and Diagnosis. Effective pharmacotherapy. 2020;16(24):68-76 (In Russ.) doi: https://doi.org/10.33978/2307-3586-2020-16-24-68-76
17. Carlos J, Torres E, Manuel L, Karen Villar Zarra, González P. Amyloid goiter diagnosis by ultrasound‐guided fine needle aspiration performed by interventional pathologist. Diagnostic Cytopathology. 2020;49(3). doi: https://doi.org/10.1002/dc.24625
18. Chincholi T, Ahmed T, Kumar Y, Pinto AC, Mallik E, Varghese GM. Rare cause of thyroid enlargement: Localized AA amyloid goiter – A case report. Int J Surg Case Rep. 2022;92:106876. doi: https://doi.org/10.1016/j.ijscr.2022.106876
19. Morado da Silva EM, Ferreira RA da C, Lozada ARC, Duarte JMS. A 54-Year-Old Woman with Papillary Thyroid Carcinoma Associated with Secondary Amyloid Goiter and Thyroid Lipomatosis. The American Journal of Case Reports. 2022;23:e938156. doi: https://doi.org/10.12659/AJCR.938156
Supplementary files
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1. Figure 1. Thyroid ultrasound. | |
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2. Figure 2. Doppler color mapping of the thyroid gland. | |
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3. Figure 3. Thyroid shear wave elastography. | |
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4. Figure 4. Cytologic examination of thyroid biopsy. | |
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Review
For citations:
Deunezhewa S.M., Dzeranova L.K., Perepelova M.A., Shutova A.S., Pigarova E.A., Soldatova T.V., Bondarenko E.V., Dvoryanchikov Ya.V., Mikheenkov A.A., Abrosimov A.U., Troshina E.A. Amyloid goiter: difficulties of differential diagnosis, choice of treatment tactics. Clinical and experimental thyroidology. 2024;20(1):49-55. (In Russ.) https://doi.org/10.14341/ket12797

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