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An unusual case of persistent dysphagia.

A 57-year-old man with a multinodular goiter and hyperthyroidism presented with progressive hoarseness and dysphagia of 2 months' duration. Flexible laryngoscopy revealed a nodular appearance of the soft palate, uvula, epiglottis, arytenoids, and vocal folds. The patient was started on omeprazole 20 mg twice daily and scheduled for a barium swallow study.

On the patient's return a week later, he reported a persistent globus sensation. Because of the appearance of his oropharynx and supraglottis after a negative swallow study (figure), he underwent a biopsy of his polypoid-appearing uvula. Pathology returned as a benign polypoid mucosa containing deposits consistent with amyloid, but with negative Congo red staining for amyloidosis.

Two months later, the patient underwent a total thyroidectomy for his multinodular goiter. Pathology of the thyroid specimen was positive for nodular hyperplasia without amyloid deposits. Six months after his initial presentation, he underwent esophagoscopy with gastroenterology for persistent dysphagia despite removal of his thyroid goiter. Biopsy of an esophageal specimen showed amyloid deposits with negative Congo red staining. The patient was referred to hematology/ oncology, where he underwent a bone marrow aspirate of his iliac crest. He was subsequently diagnosed with and began treatment for systemic amyloidosis.

While common conditions are more likely to result in hoarseness and dysphagia, amyloidosis is a rare but possible diagnosis. Laryngeal amyloidosis presents earlier than nonlaryngeal amyloidosis because of its anatomic location, but any polyposis of the airway should raise suspicion. (1) Because our patient's biopsies were consistently negative for Congo red stain, it was important to have a hematology/oncology evaluation to rule out other causes of abnormal protein deposition, such as multiple myeloma.

Amyloid deposition often does not demonstrate diagnostic staining, and electron microscopy maybe necessary to confirm a diagnosis. (2) Physicians should refrain from making diagnoses of more common etiology until biopsy has been performed in these cases. A thorough workup with subsequent identification of abnormal physical exam findings is important in patients with a seemingly obvious yet complicated presentation.

Tyler Buchanan, BS; Habib G. Zalzal, MD; Rusha Patel, MD; Jason McChesney, MD


(1.) Simpson GT 2nd, Strong MS, Skinner M, Cohen AS. Localized amyloidosis of the head and neck and upper aerodigestive and lower respiratory tracts. Ann Otol Rhinol Laryngol 1984;93(4 Pt 1):374-9.

(2.) Goodman TF Jr., Abele DC, West CS Jr. Electron microscopy in the diagnosis of amyloidosis. Arch Dermatol 1972;106(3):393-7.

Caption: Figure. Mucosal lumps extend throughout the supraglottic portion of the pharynx, including the laryngeal surface of the epiglottis and the posterior pharynx. The polypoid-appearing glottic opening is typically seen in patients with laryngeal amyloidosis.

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Author:Buchanan, Tyler; Zalzal, Habib G.; Patel, Rusha; McChesney, Jason
Publication:Ear, Nose and Throat Journal
Article Type:Case study
Date:Dec 1, 2018
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