Familial paraganglioma syndrome: applying genetic screening in otolaryngology.

CONTEXT

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.

DESIGN

case series, literature review, clinical guidelines.

SETTING

tertiary care hospital.

PATIENTS

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.

INTERVENTION

genetic screening.

MAIN OUTCOME MEASURE

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.

CONCLUSION

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.