Severe Diffuse Systemic Amyloidosis with Involvement of the Pharynx, Larynx, and Trachea: CT and MR Findings

Abstract

SUMMARY:Amyloidosis is a term applied to a diverse group of disorders that share the deposition of amyloid protein in various extracellular tissues. Systemic amyloidosis may involve almost any organ system in the body including regions in the head and neck; however, pharyngeal involvement is rare, with only 12 cases having been previously reported. Ten of these cases were localized disease, and only 2 cases were systemic amyloidosis. We present the case of a patient with severe diffuse systemic amyloidosis with extensive involvement of the pharynx, larynx, trachea, lungs, eyelids, and breasts. We also review the imaging characteristics and pertinent literature.A myloidosis is a rare, infiltrative condition characterized by deposition of abnormal protein in various tissues. When systemic amyloidosis involves regions of the head and neck, the larynx and trachea are the most common sites. To date, there have been only 2 prior reported cases of systemic amyloidosis involving the pharynx. We present a case of severe diffuse systemic amyloidosis in the chest, head and neck, with extensive involvement of the pharynx and we review the literature. Case ReportThe patient was a 64-year-old woman with a history of myasthenia gravis for 30 years, type 1 diabetes mellitus, and amyloidosis for 4 years. In the past, the patient was found to have amyloid deposits in the eyelids and breasts. A biopsy confirmed findings consistent with the AL type (amyloid light chain) of amyloidosis. The patient presented with increased shortness of breath and hoarseness on the most recent hospital admission. There was no past medical history of renal failure or multiple myeloma. The patient was being treated for myasthenia gravis with pyridostigmine (Mestinon) and high-dose steroids and had received plasmapheresis therapy in the past. Physical examination was significant for bilateral ptoses and indurations of the eyelids, pharyngeal fullness, shortness of breath, and a decreased range of motion of the neck. Her urine was negative for Bence-Jones protein, and the results of serum protein and urine protein electrophoreses were unremarkable.A tracheostomy was performed, and a high-resolution chest CT study showed extensive interstitial lung disease, abnormally attenuated breast tissue (Fig 1) for the patient's stated age, and small nodules in the tracheal mucosa with marked thickening of the tracheal wall with significant stenosis (not shown). An endoscopic examination of the trachea revealed nodular deposits and plaques on the mucosal surface along its entire length. Noncontrast MR imaging of the neck was performed on a 1.5T magnet. Contrast was not administered because of a reported allergy to gadolinium. The images showed large submucosal, nodular masses in the pharynx and supraglottic larynx, and thickening of the tracheal wall with stenosis. These masses had intermediate T1-weighted signal intensity (Figs 2A) and low T2-weighted signal intensity ( Figs 2B, C, D). The large submucosal supraglottic laryngeal deposits were the primary cause of h...

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