Abstract
SESSION TITLE: Obstructive Lung Diseases SESSION TYPE: Fellow Case Report Posters PRESENTED ON: 10/09/2018 01:15 PM - 02:15 PM INTRODUCTION: Primary amyloidosis (PA) is a plasma cell disorder associated with tissue deposition of amyloid fibrils. Thyroid amyloidosis resulting in symptomatic goiter is rare. We report a case of amyloid goiter in setting of PA complicated by airway obstruction requiring urgent tracheostomy. CASE PRESENTATION: A 60 year old male with history of carpal tunnel syndrome presented to an outside facility with progressive tongue swelling. Biopsy revealed amyloidosis by Congo red staining (CRS). Bone marrow biopsy demonstrated 50% of cellularity consisting of plasma cells with kappa restriction. Peripheral blood was notable for elevated kappa free light chain (FLC) at 92.8mg/dL (reference range: 0.3-1.9mg/dL), normal lambda FLC and beta-2-microglobulin. Hemoglobin, calcium, renal function panel and skeletal survey were normal. Two months later, he presented to Barnes-Jewish Hospital with dyspnea, dysphagia and 40-lbs weight loss. Physical exam revealed macroglossia, left submandibular gland swelling and bilateral enlarged thyroid gland. Stridor was audible on minimal neck flexion. Thyroid panel was normal. Computed tomography showed markedly enlarged thyroid gland and isthmus extending inferiorly with mass effect on trachea at thoracic inlet. Tracheostomy was performed urgently to secure the airway. Biopsies of the thyroid, esophagus and left submandibular gland confirmed amyloidosis indicating systemic involvement. Echocardiogram suggested cardiac amyloidosis as well. Patient was subsequently treated with chemotherapy regimen consisting of cyclophosphamide, bortezomib and dexamethasone. After 6 cycles, kappa FLC reduced to 1.8mg/dL with significant improvement in clinical symptoms and tracheostomy was eventually decannulated. DISCUSSION: PA is associated with accumulation of amyloid, derived from immunoglobulin light chain fragments, commonly affecting the heart, liver, kidneys and spleen, which can ultimately lead to organ failure. Incidence of amyloid deposition leading to diffuse thyroid enlargement in PA is rare. Biopsy is required for diagnosis; amyloid emits hallmark apple-green birefringence with CRS. Treatment of the underlying plasma cell dyscrasia is recommended for PA however, little is known about effect of treatment on the goiter. CONCLUSIONS: Amyloid goiter is a rare and potentially life-threatening complication of primary amyloidosis as it can cause upper airway obstruction. It is crucial to ensure a patent airway and tracheostomy may become necessary. Initiating chemotherapy aimed at the plasma cell disorder could result in improvement of goiter and overall disease, as highlighted in this case. Reference #1: Goldsmith JD, et.al: Amyloid goiter: report of two cases and review of literature. Endocr Pract 6: 318-323 Reference #2:Siddiqui M, et. al: Amyloid goiter as a manifestation of primary systemic amyloidosis. Thyroid 2007; 17(1): 77-80 DISCLOSURES: No relevant relationships by Reena Gurung, source=Web Response No relevant relationships by Hrishikesh Kulkarni, source=Web Response no disclosure on file for Colleen McEvoy; No relevant relationships by Keith Stockerl-Goldstein, source=Web Response
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