|Year : 2020 | Volume
| Issue : 4 | Page : 217-219
Amyloidosis presenting as a solitary nasal mass
Department of Clinical Haematology, Dayanand Medical College and Hospital, Ludhiana, Punjab, India
|Date of Submission||14-Jul-2020|
|Date of Decision||17-Aug-2020|
|Date of Acceptance||18-Aug-2020|
|Date of Web Publication||26-Nov-2020|
Dr. Suvir Singh
Department of Clinical Haematology, Dayanand Medical College and Hospital, Ludhiana, Punjab
Source of Support: None, Conflict of Interest: None
Amyloidosis is characterized by extracellular deposition of amyloid fibrils. Localized collection of amyloid material in the form of a mass is extremely rare. Mr. M presented with epistaxis and was found to have a friable mass in the right maxillary antrum. Excision was followed by the resolution of symptoms, and histopathology revealed subepithelial collection of amorphous pink material. It was positive for methyl violet and Congo red stain and showed apple-green birefringence. Staining for serum amyloid A and kappa/lambda light chains were negative. Workup for multiple myeloma, positron emission tomography scan for other masses, and screening for end-organ damage was also negative. He continues to be asymptomatic on observation 1-year after presentation. Amyloidosis presenting as a nasal mass has been described in less than five patients so far. Local excision appears to be the best treatment and is associated with a low risk of recurrence on long-term follow-up.
Keywords: Amyloid, epistaxis, kidney, myeloma
|How to cite this article:|
Singh S. Amyloidosis presenting as a solitary nasal mass. Indian J Med Spec 2020;11:217-9
| Introduction|| |
Amyloidosis is a rare group of disorders characterized by extracellular deposition of protein fibrils, potentially leading to end-organ damage. Over thirty different types of protein that lead to amyloid deposition have been identified, each with minor differences in organs involved and underlying disease mechanisms. A detailed description of each and their nomenclature was published in 2018. The structure of amyloid fibrils across different subtypes is remarkably preserved and consists of beta-pleated sheets along with a nonfibrillary component. Amyloid deposits grow by recruitment of repeated units of amyloid protein, leading to polymeric fibrils. The most common presentation is systemic involvement with amyloid light chain (AL) amyloidosis with the deposition of immunoglobulin light chains.
Uncommonly, true localized amyloidosis without any evidence of systemic involvement can be noted. Presentation as a solitary mass lesion in the absence of systemic involvement is rare. We report a patient who presented with a single nasal amyloidoma with no other features of systemic disease.
| Case Report|| |
Mr. M, a 39-year-old male presented with unilateral epistaxis for 1 week. On initial evaluation, he was found to have a friable soft-tissue mass in the right maxillary antrum attached to its anterior wall. There was no history of recurrent joint pains, skin rash, weight loss, or any other features of connective tissue disease. Initial investigations revealed normal blood counts, liver, and renal function tests. He was evaluated by otorhinolaryngology and underwent excision of the nasal mass with a provisional diagnosis of a nasal polyp. Excision was followed by resolution of epistaxis. Gross pathologic examination revealed a friable mass with a mucoid surface, admixed with blood clots. Microscopic examination showed the presence of normal airway epithelium, with subepithelial tissue showing large areas of amorphous pink material. Fibrin thrombi were noted in vessels and no fungal elements or mucin were identified on the same [Figure 1] and [Figure 2]. The pink material was positive for Congo red stain and showed apple-green birefringence. Staining with methyl violet revealed homogeneous pink deposits in the same areas. Further staining for serum amyloid A was negative, and kappa/lambda staining was equivocal. Evaluation for systemic amyloidosis and multiple myeloma, including bone marrow examination, immunofixation electrophoresis, and positron emission tomography scan was negative. An upper gastrointestinal (GI) endoscopy and biopsy were negative for amyloidosis. A summary of the patient's evaluation is provided in [Table 1].
|Figure 1: Low power view of excised lesion: Normal airway epithelium with sub-epithelial homogeneous pink material suggestive of amyloidosis. H and E, ×100|
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|Figure 2: High power view of excised lesion: Subepithelial tissue with homogeneous pink material suggestive of amyloidosis, with no abnormal infiltrates. Methyl Violet, 400 x|
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The patient was kept under follow-up and no other therapy was initiated. He continues to be asymptomatic 1 year after the initial presentation with no evidence of systemic disease.
| Discussion|| |
Amyloidosis is an uncommon disease, with registry data indicating an incidence of < 1/100,000 population. In developed countries, AL amyloidosis is by far the most common subtype, and along with AA amyloidosis constitutes over 80% of reported patients. Hereditary and other uncommon subtypes bring up the remaining minority of cases. Amyloidosis commonly presents with systemic involvement, and in some cases, can present with organ-specific disease, commonly involving the brain, skin, and genitourinary tract. In AL amyloidosis, this is mediated by localized synthesis of IgG light chains. In published literature on localized amyloidosis, clear demarcation based on systemic disease is often not present, and true localized amyloidosis without systemic involvement is rare. This is illustrated by a Mayo clinic review published in 2006, which described 20 cases with localized amyloidosis over a 10-year period, along with 290 cases in literature overall.
Presentation as a discrete mass represents an uncommon presentation of localized amyloidosis and was first described in 1964 in the form of a sternal tumor. Over the next 10 years, a total of ten cases of pulmonary nodules diagnosed as “amyloidoma” had been described, with the precise description of “primary, nonsystemic, solitary amyloid tumor of pulmonary parenchyma.” Since then, presentation as amyloidoma has been noted in almost all organ systems, including the gastrointestinal tract,, central nervous system, peripheral nerves , and genitourinary tract. Isolated presentation without systemic involvement continues to be rare, and in the review cited above, only a single patient over a 10-year period presented with discrete pulmonary nodules.
Literature review reveals only two cases describing the initial presentation as a solitary nasal mass. One was in an 82-year-old female who presented with a retroclival swelling, and another in a 10-year-old child. Both are summarized in [Table 2].
|Table 2: Salient features of two other reports with isolated nasal amyloidoma|
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It is important to note that amyloidomas are usually associated with underlying systemic disease and cannot be labeled as isolated unless systemic disease is ruled out. A case series in 1993 described that a majority of patients presenting with isolated amyloidomas had underlying plasma cell dyscrasia. Furthermore, systemic amyloidosis may commonly present with organ limited involvement, and true extent of disease is only revealed by further systemic evaluation. This makes it essential to perform a complete systemic evaluation, including workup for underlying inflammatory disorders and plasma cell dyscrasia. Ruling out renal, hepatic, cardiac, and hematologic involvement is also essential to confirm localized nature of disease. This distinction is important as localized disease has excellent outcomes. Once systemic involvement has been ruled out, the risk of progression to systemic disease is very low. As exemplified by the review from Mayo Clinic described above, only 4 out of 190 patients with localized amyloidosis (2%) went on to develop systemic disease. Therefore, in the absence of systemic disease or end-organ damage, patients with localized amyloidosis can be safely kept under observation. Similarly, a solitary amyloid mass without any systemic involvement can be excised for symptom control and can be observed without further treatment.
To summarize, our patient demonstrates two important features. First, amyloidosis can have a variable clinical presentation and present as an isolated mass. A high index of suspicion must be kept, and it can only be labeled localized once full systemic evaluation has been done. Second, local excision appears to be the best treatment for a solitary mass and is associated with a low risk of recurrence on long-term follow-up.
The author wishes to acknowledge the department of Pathology, Dayanand Medical College and Hospital, Ludhiana for providing the accompanying histopathology images.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2]
[Table 1], [Table 2]