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

Abstract

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.

Localized Amyloidosis of the Nasal Mucosa: A Case Report and Review of the Literature

“…In high-risk patients, bortezomib-which has a faster onset of action-may be preferred; however, low-dose combination therapy may also be preferred (6). In contrast to systemic AL amyloidosis, both localized and systemic chemotherapy for localized amyloidosis have been shown to be ineffective (10). In our review of the literature, one case was treated with systemic chemotherapy with melphalan and dexamethasone, which was also ineffective (30), suggesting that chemotherapy may be also ineffective for localized sinonasal amyloidosis.…”

“…In general, the prognosis for localized and systemic amyloidosis is quite different. Localized amyloidosis has a high survival rate (about the same as the general population), while systemic dissemination has a dismal average survival time of 5-15 months (10). It is very rare for localized amyloidosis to become systemic in the natural course of the disease, with only 7 of 606 cases (1%) showing this change in a previous study (9).…”

“…For localized amyloidosis of the head and neck region, symptom-based management is recommended. If systemic amyloidosis is ruled out by appropriate testing, treatment may include observation in the absence of symptoms or conservative resection for symptom relief followed by annual follow-up for up to 10 years (10). However, the risk of recurrence after conservative resection for localized amyloidosis is high.…”

“…Localized amyloidosis in the head and neck region is a rare entity (10), and localized amyloidosis of the nose is extremely rare. Among localized amyloidosis foci in the head and neck region, the larynx is the most frequently involved site (61%), followed by the oropharynx (23%), trachea (9%), orbit (4%), and only 3% of cases are reported to involve the nasopharynx and sinonasal tract (11,12).…”

Localized Amyloidosis of the Sphenoid Sinus: A Case Report and a Descriptive Literature Review

“…Amyloidosis refers to the extracellular tissue deposition of misfolded protein fibrils. These deposits may result in a variety of clinical manifestations, depending primarily on the type, location, and quantity of protein aggregates [ 1 , 2 ]. Several different protein precursors are recognized in humans and may be either produced in the affected location (localized subtype) or found circulating in the blood to deposit in various tissues and organs (systemic subtype).…”