Eur Arch Otorhinolaryngol (2014) 271:417–420 DOI 10.1007/s00405-013-2777-5
CASE REPORT
Primary amyloid goiter mimicking rapid growing thyroid malignancy Kyong Hye Joung • Jae-Yong Park Koon Soon Kim • Bon Seok Koo
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Received: 26 July 2013 / Accepted: 10 October 2013 / Published online: 23 October 2013 Ó Springer-Verlag Berlin Heidelberg 2013
Abstract Amyloid accumulation in the thyroid gland leading to a clinically detectable mass, known as amyloid goiter, is a rare condition associated with primary amyloidosis. Moreover, a localized primary amyloid goiter involving only the thyroid gland is rarer still. Here, we report a patient with a localized primary amyloid goiter that had grown rapidly, causing dysphagia and dyspnea on exercise, and confused us with malignancy such as anaplastic carcinoma. After surgery, no further symptoms occurred. A diagnosis of amyloid goiter was established on microscopic examination. In patients with a rapidly enlarging thyroid gland presenting with dysphagia, dyspnea, or hoarseness, amyloid goiter and malignancy should both be suspected, even when systemic amyloidosis is not suspected. Keywords
Amyloidosis Thyroid Goiter
K. H. Joung K. S. Kim Department of Internal Medicine, Research Center for Endocrine and Metabolic Diseases, School of Medicine, Chungnam National University, Daejeon, South Korea J.-Y. Park Department of Otorhinolaryngology-Head and Neck Surgery, Konyang University College of Medicine, Daejeon, South Korea B. S. Koo (&) Department of Otolaryngology-Head and Neck Surgery, School of Medicine, Cancer Research Institute, Research Institute for Medical Sciences, Chungnam National University, 640 DaesaDong, Chung-Gu, Daejeon 301-721, South Korea e-mail:
[email protected]
Introduction Amyloidosis is characterized by the accumulation of amorphous, proteinaceous material in various organs and tissues of the body [1]. Amyloidosis can be primary or secondary according to the etiology. Secondary amyloidosis occurs in chronic inflammatory states, such as rheumatoid arthritis, Crohn’s disease, osteomyelitis, and tuberculosis [2]. von Rokitansky first reported amyloid deposits in the thyroid gland in 1855. In 1904, von Eisenberg introduced the term ‘‘amyloid goiter’’ to the literature [1]. Amyloid deposition in the thyroid gland occurs in 20 % of primary amyloidosis and 15 % of secondary amyloidosis [3]. However, a localized primary amyloid goiter involving only the thyroid gland is very rare. It can grow rapidly and often causes respiratory distress [3]. Although most patients are euthyroid, some patients with hyperthyroxinemia and hypothyroidism have been reported [2]. Herein, we report a patient with a localized primary amyloid goiter that had grown rapidly, causing dysphagia and dyspnea on exercise; he was treated successfully.
Case report A 72-year-old male presented to the otolaryngology outpatient department with dysphagia, sleep apnea, voice change, and mild respiratory discomfort for the last month. Contrast-enhanced computed tomography (CT) of the neck showed heterogeneous enhancement in both thyroid lobes and no significant abnormality of the laryngopharyngeal airway (Fig. 1a). Fiberoptic laryngoscopy revealed edema in both arytenoids and pachyderma. He was treated conservatively for 2 weeks and the symptoms improved slightly.
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Fig. 1 a Contrast-enhanced computed tomography of the neck at the first visit showing heterogeneous enhancement in both thyroid lobes and no significant abnormality of the laryngopharyngeal airway. b Three months later, the gland was larger than it was on the first visit and compressed the trachea. c A thyroid scan shows uneven decreased uptake in both lobes. d Bronchoscopic examination confirmed the thyroid mass had compressed the trachea
Three months later, he visited the department of internal medicine complaining of progressive dysphagia, dyspnea on exercise, and a rapidly growing diffuse swelling of the anterior neck. Contrast-enhanced CT showed heterogeneous enhancement in both thyroid lobes with diffuse enlargement, and the gland was larger than it was 3 months earlier and compressed the trachea (Fig. 1b). Pulmonary function test was not completely tested because of worsening dyspnea during examination. Bronchoscopic examination confirmed the thyroid mass had compressed the trachea (Fig. 1c). Thyroid function tests were compatible with subclinical hypothyroidism: free T4 1.11 (normal 0.7–1.9 ng/dL), T3 1.26 (normal 0.6–1.9 ng/mL), TSH 14.03 lIU/mL (normal 0.25–4.0). Thyroid-specific antibodies such as anti-thyroglobulin and anti-TPO antibodies were all negative. Thyroid ultrasonography revealed an enlarged thyroid gland with generally hypoechoic parenchyma (right lobe 3.3 9 3.0 9 6.0 cm, left lobe 3.3 9 3.2 9 4.6 cm) and a nodule in the right lobe. Thyroid scan revealed a goiter with unevenly decreased uptake in both lobes and a small hot nodule in the right lobe (Fig. 1d). A fine needle aspiration biopsy under ultrasonography was reported as atypia of undetermined significance. There were no abnormal findings in hematology, biochemistry, EKG or chest X-ray. Surgery was performed to rule out malignancy because of the rapidly growing anterior neck mass leading to pressure symptoms. A total thyroidectomy was done and the recurrent laryngeal nerves were preserved bilaterally. The thyroidectomy specimen weighed 114 g, with the right lobe measuring 7.0 9 3.5 9 3.5 cm, the left 7.0 9 3.0 9 3.0 cm,
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and the isthmus 3.0 9 2.0 9 1.0 cm. The external surface was encapsulated; on cut section, the gland was solid, white to tan in color, and firm in consistency (Fig. 2a). Microscopic sections showed eosinophilic amorphous deposits in the interand parafollicular areas, displacing the thyroid follicles (Fig. 2b). The deposits exhibited apple-green birefringence under polarized light microscopy with Congo red stain (Fig. 2c). The follicular cells were positive for thyroglobulin immunohistochemistry. No evidence of malignancy was present. Hence, a diagnosis of amyloid goiter was established. The postoperative period was uneventful and the symptoms such as dyspnea and dysphagia were eliminated. The patient was evaluated to rule out systemic amyloidosis. CT of the chest and abdomen, ultrasonography of the kidneys, and urinalysis were normal. There were no other chronic diseases. Therefore, the patient was ultimately diagnosed with a localized primary amyloid goiter.
Discussion Amyloid goiter is defined as the presence of amyloid within the thyroid gland in quantities sufficient to produce a clinically apparent enlargement of the gland. An amyloid goiter can be associated with either primary or secondary amyloidosis. Levillain et al. [4] reported that 56 % of cases of amyloid goiter were caused by secondary amyloidosis. Secondary amyloidosis and amyloid goiter can be associated with chronic infection and inflammation, such as in tuberculosis, rheumatoid arthritis, cystic fibrosis, bronchiectasis, and Crohn’s disease [1]. Seen in approximately
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Fig. 2 a Macroscopically, the gland was solid, white to tan in color, and firm in consistency. b The microscopic sections showed eosinophilic amorphous deposits in the inter- and parafollicular areas (hematoxylin and eosin staining, 9200). c The amorphous material in the stroma showed apple-green birefringence with Congo red under polarized light (9200)
0.04 % of patients with primary systemic amyloidosis, primary amyloidosis involving only the thyroid gland is very rare [3]. In our case, there was no evidence of chronic infection or inflammation and the systemic evaluation ruled out systemic amyloidosis and other organ involvement. These results were compatible with primary amyloidosis localized in the thyroid gland. An amyloid goiter usually affects both lobes and can develop in weeks to several months. The thyroid is usually non-tender and hoarseness, dyspnea, and dysphagia might result from gland enlargement [2, 3, 5]. Most patients are euthyroid clinically, but many different presentations have been reported. Since amyloid leads to dysfunctioning of the affected organ, the expected outcome is primary hypothyroidism. Hyperthyroidism could also be a secondary response of the thyroid gland to interstitial infiltration by amyloid material [2]. In our case, the mass had grown rapidly in the last 3 months, causing dyspnea, dysphagia, and voice change and the patient presented with subclinical hypothyroidism. Some authors report that a fine needle aspiration biopsy is an easy, safe procedure for diagnosing amyloid deposition in the thyroid gland. However, a fine needle aspiration biopsy has limited ability to distinguish between amyloid goiter, nongoitrous amyloid of the thyroid, and medullary carcinoma [6]. Therefore, the precise method of diagnosing amyloid goiter is a histopathological evaluation. Microscopic sections from the tumor show eosinophilic amorphous deposits in the inter- and parafollicular areas. The deposits stain intensely with Congo red and apple-green under polarized light. Thioflavin T, crystal violet, and Masson-Trichrome staining are also used to confirm amyloid deposits [3]. Immunohistochemical tests can differentiate amyloid A from other types of amyloid. Even
after histologic diagnosis, the extent of the disease still has to be delineated. Work-up for that includes an abdominal fat or rectal biopsy to rule out systemic amyloidosis; CT scan of the chest and Ultrasonogram of kidneys to rule out organ involvement; urine for Bence-Jones proteins and serum immunoelectrophoresis to rule out plasma cell dyscrasias; and a skeletal survey for osteolytic lesions. Common chronic diseases should be excluded to differentiate between primary and secondary amyloidosis. No effective treatment of systemic amyloidosis is available. Colchicine may prevent amyloid deposition in familial Mediterranean fever [7]. A thyroidectomy is the treatment of choice in patients with an amyloid goiter, because the definitive diagnosis requires a histological evaluation of the specimen and the operation relieves the pressure symptoms. Our patient was treated successfully with a total thyroidectomy and the histopathological evaluation revealed amyloid goiter. In conclusion, in patients with a rapidly enlarging thyroid gland presenting with dysphagia, dyspnea, or hoarseness, amyloid goiter and malignancy should both be suspected, even when systemic amyloidosis is not suspected. Acknowledgments This work was supported by a grant from the National R&D Program for Cancer Control, Ministry for Health, Welfare, and Family Affairs, Republic of Korea (0720560). Conflict of interest
None.
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