Abstract
Amyloid goiter of the thyroid is a rare disorder characterized by the deposition of amyloid proteins within the thyroid gland, leading to its enlargement and functional impairment. The exact cause of amyloid goiter remains unknown, but it is associated with multiple myeloma, systemic amyloidosis, and familial Mediterranean fever. A diagnosis is made through imaging studies and histological examination of thyroid tissue. Treatment options include observation, thyroid hormone replacement therapy, and surgical resection, depending on the extent of thyroid enlargement and functional impairment. The prognosis is generally favorable, but it depends on the underlying cause of amyloid deposition and the extent of thyroid involvement. We report a case of a 37-year-old previously healthy male who presented with a history of progressively enlarging painless neck swelling for 2–3 months. The patient was euthyroid and denied any associated symptoms. The patient subsequently underwent an uneventful hemithyroidectomy along with an unremarkable postoperative period. Histopathology examination and special stains revealed the diagnosis of amyloid goiter. A strong index of suspicion is necessary for patients with an enlarged thyroid gland and a concurrent history of chronic inflammatory processes or plasma cell dyscrasia because amyloid goiter is a rare condition. The present case is unique and unusual since there is no record in the literature of an amyloid goiter being associated with osteopetrosis in a patient. To get a conclusive diagnosis and to get rid of symptoms, a thyroidectomy is required. For the diagnosis of this uncommon entity, a histopathological study is crucial. Every effort should be taken to determine the full scope of the illness, and plasma cell dyscrasia should be ruled out in people who were previously healthy.
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Abbreviations
- FNAC:
-
fine needle aspiration cytology
- ECOG:
-
Eastern Cooperative Oncology Group
- PS:
-
performance status
- TBSRTC:
-
The Bethesda System for Reporting Thyroid Cytopathology
- CT:
-
computed tomography
- TPO:
-
thyroid peroxidase
- AL amyloidosis:
-
immunoglobulin light chain amyloidosis
- AA amyloidosis:
-
serum amyloidosis A
- AF amyloidosis:
-
familial amyloidosis
- AH amyloidosis:
-
amyloid A hereditary
- MRI:
-
magnetic resonance imaging
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All authors contributed equally to the preparation of this manuscript. RJ helped with the concept and design of the study. RP, AS, and BJ contributed to the data acquisition. AS carried out the statistical analysis. AS and BJ was involved with the clinical workup of the case and surgical management. RP and RJ performed the necessary tests and interpreted the results. RP analyzed the data and drafted the manuscript, along with writing and proofreading the manuscript. All authors critically revised the manuscript, approved the final version to be published, and agreed to be accountable for all aspects of the work.
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Jeladharan, R., Singh, A., Jat, B. et al. A Unilateral Rapidly Growing Amyloid Goiter Associated with Osteopetrosis: a Case Report and Literature Review. SN Compr. Clin. Med. 5, 185 (2023). https://doi.org/10.1007/s42399-023-01525-w
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DOI: https://doi.org/10.1007/s42399-023-01525-w