Clinical Profile of Patients with Head and Neck Amyloidosis: A Single-Institution Retrospective Chart Review

THIEME 450 Original Research Clinical Profile of Patients with Head and Neck Amyloidosis: A Single-Institution Retrospective Chart Review Anup Singh1 Mubashshirul Haq1 Kumud K. Handa1 Poonam Gautam1 1 Department of Otorhinolaryngology and Head and Neck Surgery, Medanta - The Medicity, Gurugram, Haryana, India 2 Department of Pathology, Medanta - The Medicity, Gurugram, Haryana, India Dheeraj Gautam2 Aru C. Handa1 Address for correspondence Dr. Anup Singh, MS, Department of Otorhinolaryngology and Head and Neck Surgery, Medanta, The Medicity, 8th floor, Sector 38, Gurugram-122001, Haryana, India (e-mail: ). Int Arch Otorhinolaryngol 2020;24(4):e450–e456. Abstract Keywords ► amyloidosis ► plasma cells ► laryngeal diseases ► macroglossia ► prognosis Introduction Isolated amyloidosis involving the head and neck is a rare entity. The pathophysiology of the localized disease appears to be distinct from that of the systemic counterpart. Systemic progression of the localized disease is unusual, and the prognosis of the localized form is excellent. Objective To describe the demographic and clinicopathological characteristics of patients presenting with localized head and neck subsite amyloidosis. Methods A retrospective chart review of the patients with head and neck amyloidosis identified by the electronic search of the electronic database of the Departments of Pathology and Otorhinolaryngology was performed. The various demographic and clinical data were tabulated. Results In total, seven patients (four females, three males) with localized head and neck amyloidosis (three supraglottic, three lingual and one sinonasal) were identified. Six patients had AL-amyloid deposits, and one patient had AA-amyloid deposits. Supraglottic involvement and that of the base of the tongue were treated surgically using CO2 laser, and these patients were disease-free at the last follow-up. The patient with sinonasal amyloidosis experienced symptom recurrence after six months of the functional endoscopic sinus surgery. All of the patients were screened for systemic amyloidosis with abdominal fat pad biopsy, and were found to be free of systemic spread. Conclusion Isolated head and neck amyloidosis, as opposed to systemic amyloidosis, has an excellent prognosis in terms of survival. Therefore, systemic amyloidosis should be excluded in all cases. The treatment of choice remains surgical excision; however, watchful waiting may be a suitable strategy for mild symptoms or for cases in which the disease was discovered incidentally. Introduction Amyloidosis refers to the extracellular aggregation of misfolded proteins causing cellular and organ dysfunction. It is a rare disorder, with an incidence of 5 to 10 cases per million received September 4, 2019 accepted November 11, 2019 DOI https://doi.org/ 10.1055/s-0039-3402494. ISSN 1809-9777. people per year. To date, a total of 36 types of amyloid proteins (14 involved in systemic forms, 19 involved in localized forms, and 3 subtypes in both the localized and systemic forms) have been described in humans (as well as 10 other types in other vertebrates).1 The amyloid proteins Copyright © 2020 by Thieme Revinter Publicações Ltda, Rio de Janeiro, Brazil Otorhinolaryngological Manifestations of Amyloidosis are named using the prefix ‘A’ (for amyloid) followed by the name of the protein forming the fibril. The most common forms of amyloidosis encountered in the clinical practice are: AL (formed by the κ or λ light chain of immunoglobulin G, and constituting 75% of the systemic amyloidosis cases); AA (formed by the accumulation of the misfolded acute phase reactant ‘serum amyloid A’ protein, and constituting 5% of the systemic amyloidosis cases); ATTR (deposition of misfolded transthyretin, either normal or mutated); and Aβ2M (pathological deposition of the β2 microglobulin protein in patients on prolonged renal dialysis).2 Clinically, amyloidosis has been classified as follows: 1) Localized versus systemic; 2) Primary (plasma cell dyscrasia) versus secondary (chronic inflammatory conditions); and 3) Hereditary (ATTR, familial Mediterranean fever) versus acquired (multiple myeloma). From a practical perspective, the prognosis of the localized and systemic forms lies on the two extreme ends of the spectrum, with localized amyloidosis being associated with an excellent prognosis in terms of survival (which remains nearly the same as that of the general population), and systemic dissemination resulting in a dismal outcome of a mean survival of 5 to 15 months.3,4 Head and neck involvement, either in isolation or as a part of the systemic disease, occurs in up to 20% of patients, and is associated with the AL type of amyloid deposition.2,5 We describe our experience with seven patients presenting with head and neck amyloidosis and emphasize on keeping a high index of suspicion for the diverse faces of this rare entity. The various ways in which the disease may present are reviewed, and the management issues are discussed. Materials and Methods A retrospective chart review of the patients presenting with amyloidosis localized to the head and neck subsites was conducted after obtaining permission from the institutional Ethics Committee (MICR- 991/2019 [Academic]). Patient identification was performed by searching the records of the past six years in the electronic database of the Departments of Pathology and Otorhinolaryngology and Head and Neck Surgery. The details of the patient were tabulated to include the demographic data and disease-specific data, that is, age, gender, presenting complaints, associated systemic comorbidities, local examination findings, treatment, type of amyloid protein deposition on immunohistochemistry, workup for underlying systemic illness, and systemic amyloidosis. For the workup for underlying systemic illness and systemic amyloidosis, the patients were reviewed in the Department of Internal Medicine, where a complete blood count, renal & liver function tests, urine routine microscopy, biochemistry, chest X-ray, electrocardiogram, abdominal ultrasonography and more specific tests, like the C3 (complement factor 3), anti-nuclear antibody, antineutrophilic cytoplasmic antibodies, rheumatoid factor, Bence-Jones pro- Singh et al. teinuria, and serum & urine electrophoresis, abdominal fat pad biopsy were done to rule out systemic amyloidosis. For the follow-up, the last follow-up clinical records were referred to, and the patients were contacted by phone and called for clinical assessment as needed. Results A total of 7 patients presenting with head and neck amyloidosis were identified (►Table 1) over a period of 6 years (from January 2013 to January 2019). Three patients had laryngeal involvement (all three with supraglottic involvement), three had involvement of the tongue (macroglossia or involvement of the base of the tongue), while one patient had diffuse involvement of the nose and paranasal sinuses. The clinical picture of (...truncated)