Keywords
Amyloid goiter, fine needle aspiration, thyroidectomy, pathological examination
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Laamouri R, Ben Nacef I, Tbini M et al. Amyloid goiter: A Tunisian case [version 1; peer review: awaiting peer review]. F1000Research 2025, 14:324 (https://doi.org/10.12688/f1000research.162724.1)
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Clinical Practice Article
Amyloid goiter: A Tunisian case
[version 1; peer review: awaiting peer review]
PUBLISHED 25 Mar 2025
OPEN PEER REVIEW
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Abstract
Corresponding author:
Rihab Laamouri
Competing interests:
No competing interests were disclosed.
Grant information:
The author(s) declared that no grants were involved in supporting this work.
Copyright:
© 2025 Laamouri R et al.
This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
How to cite: Laamouri R, Ben Nacef I, Tbini M et al. Amyloid goiter: A Tunisian case [version 1; peer review: awaiting peer review]. F1000Research 2025, 14:324 (https://doi.org/10.12688/f1000research.162724.1)
First published: 25 Mar 2025, 14:324 (https://doi.org/10.12688/f1000research.162724.1)
Latest published: 25 Mar 2025, 14:324 (https://doi.org/10.12688/f1000research.162724.1)
Introduction
Amyloidosis is a systemic disorder characterized by extracellular deposition of amyloid fibrillary proteins.1 This is an aggregation of more than 20 proteins belonging to families that do not exhibit structural or functional relationships. It can affect any organ and can manifest in a localized form or as a generalized disease. The mechanisms underlying its pathogenesis are poorly understood.
Pathological studies can identify this deposition by its affinity to the Congo Red stain and yellow-green birefringence under polarized light.2 Several types of amyloidosis exist, which are distinguished by the type of protein and the localization of the deposit.
A histological study of amyloid deposition in the thyroid gland revealed its presence in 30%–80% of cases.3 However, the prevalence of amyloid goiter in multinodular goiters remains low with an estimated prevalence of 0.17.4 The potential to simulate thyroid cancer by its volume and progression is also a concern.5 The earliest documented case of amyloid goiter (AG) was reported by Beckman in 1858.6 This article presents a comprehensive review of three cases of AG, complemented by a thorough literature review. This study aimed to elucidate the clinical, therapeutic, and evolutionary characteristics of this rare entity.
Case report
Case 1
A 30-year-old patient with a medical history of bilateral bronchial dilation of unknown etiology presented to the endocrinology department for the evaluation of a compressive goiter that had been present for three years. The patient reported a significant weight loss. A thorough clinical examination revealed a heterogeneous goiter that was voluminous, avascular, and hard in consistency, accompanied by multiple nodules. Thyroid assessment (thyroid-stimulating hormone and free T4) was normal. Cervical ultrasound revealed a multinodular goiter with the largest thyroid nodule measuring 6 cm. No cervical lymphadenopathy was detected. Anti-thyroid antibodies (ATAb) and Koch bacillus tests were negative, and surgical intervention was deemed necessary because of compressive symptoms and suspicious nodules. The patient underwent total thyroidectomy, and a pathological study revealed AG. A labial biopsy with Congo red coloration was later performed, confirming the diagnosis of amyloidosis AA secondary to bronchial dilation. The patient was then placed in a Colchicine, and low blood pressure were observed during monitoring. Adrenal insufficiency was suspected and confirmed using a Synachtene stimulation test, with a peak cortisol level of 457 nmol/L (550 nmol/L). The patient was prescribed hydrocortisone. The diagnosis was peripheral adrenal insufficiency, likely due to amyloid deposition in the adrenal glands, which is related to systemic amyloidosis.
Case 2
A 45-year-old patient with ankyloarthropathy was admitted to our hospital with a diagnosis of chronic glomerular nephropathy, as indicated by lower limb edema and pure nephrotic syndrome. Upon clinical examination, the patient exhibited macroglossia and diminished osteotendinous reflexes. Renal biopsy confirmed the diagnosis of renal amyloidosis. The patient was prescribed colchicine (1 mg/day). Thyroid examination revealed a multinodular goiter, as confirmed by subsequent cervical ultrasound. No compressive signs were identified during clinical examination or ultrasound imaging. The patient exhibited no clinical signs of thyroid dysfunction, and the biochemical assessment of the thyroid gland was within normal limits. Ultrasound-guided fine-needle aspiration (FNA) was performed, which confirmed the presence of amyloidosis. The patient underwent total thyroidectomy and was treated with l-thyroxine replacement therapy.
Case 3
A 32-year-old patient with a medical history of chronic osteitis complicated by repeated skin infections was admitted to the hospital with impure nephrotic syndrome, which was associated with high blood pressure, hematuria, and renal failure. Biopsy of the accessory salivary glands was performed, confirming the diagnosis of amyloidosis. Subsequently, the patient developed a goiter with endothoracic extension without thyroid dysfunction or compressive signs. The thyroid assessment was normal, and ATAb was negative for anti-ATAb. The patient underwent a cervicothoracic CT scan, which showed a goiter extending beyond the upper cervical canal (18 mm to the right and left), without compressive signs. FNA revealed the presence of a few colloidal clusters. Total thyroidectomy was performed, and pathological examination revealed histological features of an amyloid goiter. Intraoperative investigations revealed a parathyroid nodule that was surgically removed. The histological study indicated parathyroid localization of amyloidosis. Additionally, the phosphocalcic assessment was within normal limits prior to surgery ( Figure 1).
Figure 1. Histological study of thyroidectomy speciemen: Hematoxylin Eosine stain (Case number 3).
Anhistic, finely cracked amyloid deposit (arrows) within the parathyroid parenchyma (star).
Discussion
Amyloidosis is characterized by the deposition of amyloid, an insoluble, beta-pleated sheet protein. It can occur because of chronic inflammation in cases of secondary amyloidosis, which may be associated with rheumatoid arthritis, ankylosing spondylitis, and Familial Mediterranean Fever (FMF). In the present case series, three patients had a known chronic inflammatory disease. Conversely, amyloidosis can manifest as a primary condition without an identified underlying disease. The occurrence of amyloid goiter is rare, with case reports in the literature primarily focusing on adults between the ages of 40 years and 50. However, there have been reports of cases in children and elderly individuals, indicating no clear predilection for age or sex. Amyloidosis is most often a secondary complication of an underlying inflammatory disease.7,8
Progressive enlargement of the thyroid was observed clinically, and compressive signs have been documented in numerous cases in the literature. In our case, this was reported in one patient and was the primary symptom that motivated her to consult. This rapid enlargement may be attributed to the inflammation of the thyroid gland. In most cases, surgical intervention is performed to exclude malignancy. Amyloid deposition is rarely associated with thyroid dysfunctions. Our three patients exhibited clinical and biological euthyroidism, and the literature on the subject reported only a few cases of thyroid dysfunction.9
FNA has been demonstrated to be a valuable diagnostic tool in several cases; however, it does not appear to be a reliable indicator of amyloidosis. In our experience, FNA was performed in two cases, and amyloid deposition was identified on cytological examination in one. Nonetheless, as reported in some cases in the literature, core biopsy was more informative and amyloid deposition was revealed when it was performed. Definitive histological examinations remain the gold standard for diagnosis. Thyroidectomy serves a dual role as both a therapeutic and a diagnostic modality. Notably, amyloid deposition has the potential to affect other endocrine systems. As detailed in this report, one patient exhibited parathyroid amyloid deposits, which were substantiated through pathological examination despite normal calcium and phosphorus levels in the assessment. Adrenal amyloid deposition was suspected in another patient who presented with primary adrenal insufficiency. Patel et al. have also documented parathyroid amyloid deposits.8
The patient with amyloidosis secondary to FMF was diagnosed with adrenal insufficiency. We hypothesized that the patient's adrenal amyloid deposition or a condition associated with FMF was the underlying cause. To expand on this finding, a comprehensive literature review was conducted using the term "amyloid goiter" in PubMed. The search was limited to publications published between 2019 and 2024. The results of this review are summarized in Table 1.
Table 1. Characteristics of patients with amyloid goiter reported in the literature.
| Cases/Year | Age | Gender | Clinical features | Thyroid test | US | FNA/Core biopsy | Etiology of amyloidosis | Treatment | Pathological examination | |
|---|---|---|---|---|---|---|---|---|---|---|
| 1 | Gonzalez et al 202410 | 64 | F | Thyroid enlargement | Hyperthyroidism | Goiter | Core Biopsy: amyloid deposit | - | Anti thyroid medication | - |
| 2 | Larenjeira et al 202411 | 75 | F | Dysphagia | Euthyroid | Goiter Nodules 11mm | FNA: benign cyst and follicular lesion of undetermined significance | Heavy chain amyloidosis | Chemotherapy | - |
| 3 | Denizmen et al 202412 | Biopsy: Amyloid substance | ||||||||
| 4 | George et al 202413 | 51 | F | Thyroid enlargement | Hyperthyroidism | - | - | Primary amyloidosis | Total thyroidectomy | Amorphous material Papillary carcinoma |
| 5 | Gokbulut et al 202414 | 26 | F | Neck pain | Euthyroid | - | Core biopsy: Amyloid deposit | FMF | - | - |
| 6 | Khan et al 202315 | 38 | F | Hoerseness | Euthyroid | - | FNA: Bethesda II | - | Total thyroidectomy | Eosinophilic amorphous substance |
| 7 | Khader et al 202316 | 42 | M | Thyroid enlargement | Hyperthyroidism | Heterogenous goiter, no nodules | FNA: no malignancy signs | Behçet disease | Total thyroidectomy | Eosinophilic amorphous fibrillary material+ fatty metaplasia |
| 8 | Moreno et al 202317 | 21 | F | Compressive signs | Euthyroid | Diffuse thyroid enlargement | FNA: fibro inlammatory lesions | FMF | Total thyroidectomy | Amyloid deposition |
| 9 | Chihiro et al 202218 | 60 | F | Autopsy | - | - | - | Rhymatoid arthritis | - | Eosinophilic amorphous deposits with parenchymal cell destruction |
| 10 | Patel et al 20228 | 73 | M | Dysphagia Hoerseness | Euthyroid | Goiter Nodules | FNA: Bethesda I | Multiple myeloma | Total thyroidectomy | Amyloid deposition |
| 11 | Morado da silva et al 202219 | 54 | F | Dysphagia Hoerseness | Euthyroid | Goiter Nodule 28mm | FNA: Bethesda IV | chronic pyelonephritis and bronchiectasis | Total thyroidectomy | Papillary carcinoma Eosnophilic amprphous material |
| 12 | Chincholi et al 202220 | 36 | F | Thyroid enlargement Dysphagia | Euthyroid | Goiter Nodules | FNA: Bethesda II | Localized AA amyloidosis | Total thyroidectomy | Eosinophilic amorphous material |
| 13 | Cavaco et al 202121 | 46 | M | Thyroid enlargement | Euthyroid | Goiter Nodules | follicular lesion of undetermined significance | - | Total thyroidectomy | Eosinophilic amorphous material |
| 14 | Ledesma et al 202122 | 66 | M | Autopsy | Euthyroid | - | - | Primary amyloidosis | - | Amyloid deposition |
| 15 | Şeker et al 202023 | 55 | M | Dysphagia | Euthyroid | Goiter Nodules: the largest 50mm | FNA: benign thyroid cytology | Rhumatoid arthritis | Total Thyroidectomy | Amyloid desposition |
| 16 | Lari et al 202024 | 53 | M | Thyroid enlargement | Euthyroid | Homogenous goiter | FNA: benign cytology | Primary Amyloidosis | Total thyroidectomy | Eosinophilic amorphous deposition |
| 17 | Jacubovic et al 202025 | 40 | M | Dyspnea Hoarseness | Euthyroid | Enlargement gland, cystic nodules | FNA: non diagnostic Biopsy: amyloid deposits | Osteomyelitis | Total thyroidectomy | Eosinophilic amorphous material |
| 18 | Abukhalaf et al 202026 | 23 | M | Thyroid enlargement | Euthyroid | Enlargement gland | FNA: suggestive amyloidosis | FMF | Colchicine | - |
| 19 | Orrego et al 201927 | 70 | M | Thyroid enlargement | Euthyroid | Goiter, Nodules the largest 39mm | FNA: Bethesda III | Primary amyloidosis | Lobectomy | Amyloid deposition |
| 20 | Lopez et al 201928 | 48 | F | Dysphagia | Subclinical hyperthyroidism | Enlargement gland | Core biopsy: eosinophilic amyloid deposit | Rhumatoid arthritis | Total thyroidectomy | Amyloid deposition |
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Laamouri R, Ben Nacef I, Tbini M et al. Amyloid goiter: A Tunisian case [version 1; peer review: awaiting peer review]. F1000Research 2025, 14:324 (https://doi.org/10.12688/f1000research.162724.1)
NOTE: If applicable, it is important to ensure the information in square brackets after the title is included in all citations of this article.
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