ABSTRACT
AL amyloidosis and transthyretin (ATTR) amyloidosis are the most frequent forms of systemic amyloidosis diagnosed in the United States. Macroglossia is considered to be a pathognomonic feature of AL amyloidosis. We report on two cases of systemic amyloidosis with macroglossia that defied routine clinical diagnosis, in which the deposits were typed as ATTR in one case and AL in the other using immunoelectron microscopy. These cases highlight: (1) the difficulty of typing amyloidosis on clinical criteria alone; (2) the utility of immunoelectron microscopy and (3) that macroglossia, while occurring much more frequently in AL, can also accompany ATTR amyloidosis.
Subject(s)
Amyloidosis/complications , Macroglossia/etiology , Amyloidosis/immunology , Amyloidosis/pathology , Amyloidosis/physiopathology , Female , Humans , Immunoglobulin Light Chains/immunology , Macroglossia/immunology , Macroglossia/pathology , Macroglossia/physiopathology , Male , Middle Aged , Prealbumin/metabolismSubject(s)
Amyloidosis/pathology , Lip Diseases/pathology , Lip/pathology , Macroglossia/pathology , Multiple Myeloma/pathology , Tongue/pathology , Aged , Amyloidosis/complications , Amyloidosis/immunology , Heart Diseases/complications , Heart Diseases/immunology , Heart Diseases/pathology , Humans , Immunoglobulin G/metabolism , Kidney Diseases/complications , Kidney Diseases/immunology , Kidney Diseases/pathology , Lip Diseases/etiology , Lip Diseases/immunology , Liver Diseases/complications , Liver Diseases/immunology , Liver Diseases/pathology , Lung Diseases/complications , Lung Diseases/immunology , Lung Diseases/pathology , Macroglossia/etiology , Macroglossia/immunology , Male , Multiple Myeloma/complications , Multiple Myeloma/immunology , Skin Diseases/complications , Skin Diseases/immunology , Skin Diseases/pathology , Splenic Diseases/complications , Splenic Diseases/immunology , Splenic Diseases/pathology , Stomach Diseases/complications , Stomach Diseases/immunology , Stomach Diseases/pathologyABSTRACT
A 73-year-old patient complained of increasing macroglossia and symmetrical enlargement of the submandibular region. A tongue biopsy showed typical deposits of amyloid by Congo red staining and polarization microscopy. Similar deposits were found in biopsy specimens of the submaxillary gland and the rectum. Electron microscopy revealed typical amyloid fibrils. With the indirect immunoperoxidase technique the amyloid was classified as being of immunoglobulin kappa-light-chain origin (A-kappa), because only anti-A kappa, but not anti-A lambda (several antisera of non-overlapping specificity), anti-ASc1 or anti-AF antisera were found to be reactive. Correspondingly, Bence Jones protein of the kappa type was found in the urine. In the bone marrow there was an increase in plasma cells of up to 10%. Cytostatic therapy with melphalan and methylprednisolone seemed to stop the progression of amyloid deposition.