Proportion of heritable paraganglioma cases and associated clinical characteristics.

OBJECTIVE/HYPOTHESIS: To determine the heritable proportion of paraganglioma (PGL) and identify clinical features associated with heritable PGL.

STUDY DESIGN

Patients diagnosed with head and neck PGLs, identified retrospectively through clinical otolaryngology practices and/or participation in previous PGL research studies, were given a medical and family history questionnaire.

METHODS

Questionnaire information was used to classify participants as having "heritable" or "non-heritable" cases of PGL. Classification of the participants identified through otolaryngology clinics was used to estimate the heritable proportion of PGL. Statistical analysis was performed to identify significant differences in the clinical characteristics of the heritable versus non-heritable groups.

RESULTS

Among the otolaryngology clinic population, 35% were classified as having heritable PGL. Individuals with heritable PGL were younger on average than those with non-heritable PGL. The majority of non-heritable participants were female, but there was an equal gender ratio among the heritable participants. Individuals diagnosed with a carotid body tumor (CBT) were 5.8 times more likely to be classified as heritable than those diagnosed with PGL at other anatomic locations.

CONCLUSIONS

Approximately 35% of individuals who present to an otolaryngologist with a head and neck PGL have inherited a predisposition for this growth. Among individuals diagnosed with head and neck PGL, those diagnosed with CBT are 5.8 times more likely to have an inherited predisposition than those diagnosed with PGL at other anatomic locations.