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Year : 2017  |  Volume : 4  |  Issue : 2  |  Page : 117-121

Primary systemic amyloidosis presenting as macroglossia

1 Department of Biochemistry and Laboratory, Yashoda Hospital, Hyderabad, Telangana, India
2 Department of Pathology, Yashoda Hospital, Hyderabad, Telangana, India
3 Department of Medical Oncology, Yashoda Hospital, Hyderabad, Telangana, India
4 Department of Medical Publications, Yashoda Hospital, Hyderabad, Telangana, India

Correspondence Address:
Karishma Rosann Pereira
Yashoda Hospitals, Nalgonda X Roads, Malakpet, Hyderabad - 500 036, Telangana
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/sjos.SJOralSci_5_17

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Primary amyloidosis is a group of monoclonal plasma cell disorders, characterized by extracellular deposition of immunoglobulin light chain fibrils in multiple organs leading to progressive multiorgan dysfunction. We report a 61-year-old female patient with an enlarged tongue, difficulty in speech, gradually changing quality of voice, and loss of weight. Diagnosis of amyloidosis and systemic nature confirmed by tongue biopsy and anterior abdominal fat biopsy using Hematoxylin and Eosin staining and Congo red staining. Urine examination positive for Bence–Jones proteins. Bone marrow aspiration cytology, bone marrow aspirate flow cytometry immunophenotyping, serum immunofixation electrophoresis, and urine immunoelectrophoresis revealed plasmacytosis, clonal plasma cell population, marked increased in lambda light chain in serum and urine, respectively. Based on these observations, a definitive diagnosis of primary systemic amyloidosis associated with plasma cell dyscrasia was made. He was treated with intravenous (IV) bortezomib and IV dexamethasone. A battery of tests is necessary to differentiate localized amyloidosis from its systemic forms for diagnosis, treatment and to assess treatment outcome.

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