Objective: Carotid body tumours are rare lesions which are familial in 10 per cent of cases. In this paper, we demonstrate the clinical applicability of predictive genetic testing for familial carotid body tumours.
Methods: We report a case manifesting with multiple carotid body tumours, in which subsequent genetic testing demonstrated a germline mutation which could be traced across generations. We review the diagnosis and management of carotid body tumours in the familial setting, together with the strategies presently available to screen individuals from susceptible families.
Conclusions: The recent advent of a predictive genetic test for familial carotid body tumours offers a novel means of pre-selecting those at risk, so as to minimise screening costs and patient morbidity. Early diagnosis of lesions is essential to allow early intervention, reducing surgical morbidity and progression to malignancy.