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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Familial primary localized laryngeal amyloidosis in two sisters
Haldun Oğuz1, Mustafa Asim Safak, Münir Demirci
1Department of Otolaryngology, Ankara Training and Research Hospital, Ankara, Turkey. drhoguz@gmail.com
Abstract:
Laryngeal amyloidosis is rare, accounting for less than 1% of all benign laryngeal tumors. Although familial primary localized amyloidosis has been reported in other parts of the body, no familial cases have been reported in the larynx. Primary localized laryngeal amyloidosis was detected in two sisters whose ages were 35 years and 38 years, respectively. In the elder patient, a previous endolaryngeal biopsy for symptoms of dysphonia yielded no pathologic findings. Laryngoscopic examination of the patient showed a significant submucosal accumulation at the level of ventricles and vocal folds. The younger sister had a complaint of hoarseness for five years. The results of endolaryngeal biopsies performed in both patients were reported as amyloidosis. Further evaluations were negative for systemic amyloidosis. No surgical intervention was considered. The patients were monitored for more than two years without any other coexisting disease.
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