macroglossia as the only presenting feature of amyloidosis due to mgus

CLINICAL PICTURE

Macroglossia as the only presenting feature of amyloidosisdue to MGUS

Macroglossia is a well-known complication of primary (AL)amyloidosis and considered a pathognomonic feature of thedisease. However, the finding of an enlarged tongue asthe only clinical abnormality may be similar for variousdiseases.An elderly woman with a tongue ulcer was seen elsewhereby an oromaxillofacial surgeon. Progressive and painlessenlargement of the tongue occurring over the past year hadresponded to systemic glucocorticoids. Her medical historyincluded arterial hypertension, and she was taking valsartan.A biopsy of the lesion revealed chronic inflammation. Shereported no pain, dyspnea, or dysphagia. Laboratory testsexcluded inflammation, hypothyroidism, and hereditary oracquired angioedema. High-dose therapy with up to1000 mg per day of prednisolone resulted in promptimprovement.When seen here, the patient’s swollen tongue protruded

from her mouth (Fig. 1A) affecting her ability to speak,swallow, and breathe. The ulcer had healed, there were nolocal masses, and her physical examination was otherwisenormal. Laboratory investigations, including serum levelsof vitamin B12, growth hormone, insulin-like growth factor-1 and thyroid function tests, were normal. Magneticresonance imaging of the head, neck, and chest revealed alarge mediastinal goiter and no pituitary tumor. Reassess-ment of the tongue biopsy specimen obtained 13 monthsearlier and immunohistopathology revealed extensive AL

amyloid deposits of k-light chain origin (Fig. 1B–D).Further investigations showed monoclonal elevation ofserum k-light chains at 78 mg/dL (normal < 2.6 mg/dL), adecrease in the serum j/k-light chain ratio at 0.01 (normal0.26–1.65), and 5–10% of plasma cells in the bonemarrow. There were no signs of other lymphoproliferativedisorders or abnormal urinary protein excretion. Redblood cell count, renal function testing, serum ionized cal-cium, and a skeletal survey were normal, establishing thediagnosis of primary (AL) amyloidosis associated withmonoclonal k-light chain gammopathy of undetermined sig-nificance (MGUS). The patient received chemotherapy withmelphalan and dexamethasone, and 10 months later, themacroglossia had slightly improved.This report illustrates the clinical case of AL amyloidosis

secondary to MGUS in a patient with progressive macro-glossia as the sole symptom. Chemotherapy with melphalanand dexamethasone is a therapeutic option for patients ineli-gible for stem-cell transplantation. Establishing the correctdiagnosis may be delayed in patients with amyloidosis, andour case offers valuable lessons. (I) Initial response to gluco-corticoids did not unravel the underlying cause and mayhave delayed the diagnosis. (II) The fact that an oftensystemic disease only presented as a large tongue led tomanagement by an oromaxillofacial specialist with selectivecognition and an organ-centered rather than a systemicapproach.

A B

C

D

Figure 1 Massive macroglossia (A). Positive Congo red staining with light microscopy (B, arrows) and the resultant green birefringence under

polarized light (C, arrows) are pathognomonic for amyloid. Positive immunohistochemical staining for k-light chains (arrows, D) (all 200 9).

88 © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd

doi:10.1111/ejh.12163 European Journal of Haematology 92 (88–89)

Conflict of interest

The authors have no conflict of interest.

Elena Tsourdi1*, Roland D€arr1*, Kathrin Wieczorek2,Christoph R€ocken3, Florian Ehehalt4, KarstenConrad5, Uwe Platzbecker6, Lorenz C Hofbauer11Department of Medicine III, Dresden Technical Univer-

sity Medical Center, Dresden; 2Institute of Pathology,

Dresden Technical University Medical Center, Dresden;3Institute of Pathology, University Hospital Kiel, Kiel;4Department of Surgery, Dresden Technical University

Medical Center, Dresden; 5Institute of Immunology,

Dresden Technical University Medical Center, Dresden;6Department of Medicine I, Dresden Technical University

Medical Center, Dresden

*These authors contributed equally to this work.

Correspondence Lorenz C. Hofbauer, MD, Division of

Endocrinology, Diabetes, and Bone Diseases, Depart-

ment of Medicine III, Dresden Technical University

Medical Center, Fetscherstr 74, 01307 Dresden,

Germany. Tel: +49 351 458 3173; Fax: +49 351 458 5801;

e-mail: lorenz.hofbauer@uniklinikum-dresden.de

© 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd 89

Clinical Picture