title: Familial paraganglioma syndrome: applying genetic screening in otolaryngology.
abstract: BACKGROUND
  sporadic head and neck paragangliomas often represent familial paraganglioma syndrome (FPS). FPS patients require close follow-up, and family members will benefit from screening. No clear guideline for following these patients exists in the otolaryngology literature.
  
  
  OBJECTIVE
  to present a series of FPS patients, illustrating the importance of a cost-effective FPS genetic screening algorithm applicable in otolaryngology.
  
  
  METHODS
  case series, literature review, clinical guidelines.
  
  
  METHODS
  tertiary care hospital.
  
  
  METHODS
  adult patients with SDHx mutations were identified in the University of Alberta's head and neck mass database. Medical records were reviewed for presentation, diagnosis, findings, treatment, follow-up, and genetic testing. A literature review of FPS clinical features, treatment, and genetic screening methods was performed.
  
  
  METHODS
  genetic screening.
  
  
  METHODS
  cost-effectiveness of genetic testing for FPS screening.
  
  
  RESULTS
  two patients with FPS were surgically treated by otolaryngologists. All patients presented with multifocal disease and carried SDHB or SDHD mutations. A screening and genetic testing protocol was implemented leading to early detection in a third patient, thus reducing morbidity. The literature review supports the contention that all patients with head and neck paragangliomas should undergo genetic testing. An algorithm to screen such patients is proposed. Cost analysis showed savings of over $2400 ($US 2200) every 6 years with this approach.
  
  
  CONCLUSIONS
  owing to the potential morbidity associated with head and neck paragangliomas, it is prudent that FPS be ruled out. Those found to have SDHx mutations, and first-degree relatives, should be offered genetic testing with enrolment in a screening protocol. This provides a cost-effective, early detection approach to FPS.
authors.affiliation: Division of Otolaryngology-Head and Neck Surgery, University of ALberta, Walter C mackenzie Centre, Edmonton, AB.
authors.forename: Peter T
authors.initials: PT
authors.lastname: Dziegielewski
authors.forename: Aaron
authors.initials: A
authors.lastname: Knox
authors.forename: Richard
authors.initials: R
authors.lastname: Liu
authors.forename: Ryan W
authors.initials: RW
authors.lastname: Hung
authors.forename: Jeffrey
authors.initials: J
authors.lastname: Harris
mesh_terms: D000328:Adult; D000465:Algorithms; D003362:Cost-Benefit Analysis; D005260:Female; D005820:Genetic Testing / Q000191:economics; D006258:Head and Neck Neoplasms / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010235:Paraganglioma / Q000175:diagnosis* / Q000235:genetics; D012189:Retrospective Studies; D013385:Succinate Dehydrogenase / Q000235:genetics
chemical_list: C491545:SDHD protein, human; C108095:SDHB protein, human; D013385:Succinate Dehydrogenase