Amyloidosis was confirmed based on the excisional biopsy taken from the lacrimal gland mass, and SS was diagnosed according to the American–European consensus criteria for SS based on the oral and ocular symptoms, Schirmer test, salivary gland biopsy, and serum anti-Ro/anti-La antibodies. We excluded primary amyloidosis due to the absence of abnormal findings on bone marrow biopsy, immunofixation, and protein electrophoresis and diagnosed the patient with simultaneous primary SS and localized secondary amyloidosis of the lacrimal gland. Pilocarpine (10 mg/d) and hydroxychloroquine (200 mg/d) were initiated for the treatment of SS. Six months after the initial diagnosis, the patient reported no worsening of dry eyes and mouth and no masses suggestive of localized amyloidosis.
In this case report, excisional biopsy of a lacrimal gland tumor in a patient who presented to the hospital with a left eyelid mass confirmed amyloidosis, and SS was diagnosed during additional evaluation to determine the etiology of amyloidosis. Serum and urine immunofixation and protein electrophoresis to assess amyloidosis did not show monoclonal bands, and κ and λ light-chain analysis and bone marrow biopsy also revealed no notable findings. Based on these findings, primary amyloidosis was clinically excluded. There were no signs of amyloid deposition in organs other than the lacrimal gland. Therefore, we confirmed the diagnosis of the patient, that is, simultaneous localized amyloidosis of the lacrimal gland and primary SS.
In general, amyloid A accumation caused by chronic inflammation primarily occurs in secondary amyloidosis with chronic rheumatic diseases such as RA or AS. For SS, 1 case of amyloid A deposition has been reported, but other cases of AL amyloidosis caused by polyclonal gammopathy as a result of B cell activation were also reported:[2,4] this may have been a result of polyclonal hypergammaglobulinemia of SS. Although we could not accurately identify the type of amyloidosis in the current patient through immunohistochemical assessment of the lacrimal gland tumor, we diagnosed the patient with secondary amyloidosis (AA amyloidosis) based on the serum and urine immunofixation, protein electrophoresis, and bone marrow biopsy results.
In previous cases, localized amyloidosis with SS has been reported to affect the skin, lungs, tongue, mammary glands, and parotid gland:[2,5–7] systemic amyloidosis with SS is rarely reported than localized amyloidosis.[2,8,9] Among cases of localized amyloidosis in SS, the skin and lungs were the most common organs involved. While cutaneous amyloidosis is generally painless, pulmonary amyloidosis in SS can cause dyspnea, cough, pleuritic chest pain, and even hemoptysis. In addition, 25% of patients with localized nodular skin amyloidosis were reported to have SS. Because the onset of localized nodular skin amyloidosis may precede SS, it would be beneficial to screen for the presence of SS when a patient has this type of amyloidosis. Otherwise, to our knowledge, this is the first case in which amyloidosis with SS occurred in the lacrimal gland, but not in other more common sites such as skin and lung. Thus, our case suggests that coexistent SS should be considered when amyloidosis develops in the lacrimal gland or salivary gland, the major organs involved in SS.
For treatment of amyloidosis associated with SS, steroid therapy or surgical excision can be performed for amyloidosis affecting the skin or lungs when the lesions can be excised. For amyloidosis accompanied by lymphoma or systemic amyloidosis, general antineoplastic treatment involving cyclophosphamide is commonly used, and there are reported cases in which amyloidosis naturally regressed. In our case, amyloidosis was not identified on bone marrow, gastrointestinal, cardiac, and immunoglobulin assessments; thus, we only excised the localized lesion. The patient is still on follow-up without recurrence or worsening of amyloidosis symptoms. The patient has received hydroxychloroquine and pilocarpine for the treatment of SS, and no therapy for amyloidosis.
In most cases in which amyloidosis accompanies SS, amyloidosis is diagnosed 1–25 years after the onset of SS, but there are some cases in which SS and amyloidosis have been diagnosed simultaneously.[6,9] Considering the pathogenesis of the disease, amyloidosis is speculated to occur only after inflammation develops over the course of SS; hence, the reason that the 2 diseases were discovered simultaneously may be that SS developed first, but the patient was unaware of SS due to a lack of symptoms or mild symptoms, and was subsequently diagnosed with both amyloidosis and SS upon clinical presentation. The present case represents an additional report of the simultaneous diagnosis of SS and localized amyloidosis of the lacrimal gland.
In conclusion, an excision biopsy of a lacrimal gland tumor discovered in a patient initially presenting with a left eyelid mass revealed localized amyloidosis of the lacrimal gland, and subsequent careful workup led to the additional diagnosis of SS. This is a rare case of amyloidosis, localized to the lacrimal gland, which was accompanied by SS. Thus, despite its rarity, physicians should be aware of the potential coexistence of secondary amyloidosis, even in the localized form, in patients with SS.
Conceptualization: Seong-Min Kweon, Jung Hee Koh, Han-Na Lee, Eunsung Kim, Ho-Jin Shin, Seung-Geun Lee.
Data curation: Jung Hee Koh, Han-Na Lee, Eunsung Kim.
Funding acquisition: Seung-Geun Lee.
Investigation: Seong-Min Kweon, Seung-Geun Lee.
Methodology: Seong-Min Kweon, Seung-Geun Lee.
Software: Seung-Geun Lee.
Supervision: Min Wook So, Ho-Jin Shin, Hee Young Choi.
Validation: Min Wook So, Ho-Jin Shin, Hee Young Choi, Seung-Geun Lee.
Visualization: Hee Young Choi.
Writing – original draft: Seong-Min Kweon, Seung-Geun Lee.
Writing – review & editing: Seung-Geun Lee.
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Keywords:Copyright © 2018 The Authors. Published by Wolters Kluwer Health, Inc. All rights reserved.
amyloidosis; lacrimal apparatus; Sjogren syndrome