[Hereditary pheochromocytoma and paraganglioma: screening and follow-up strategies in asymptomatic mutation carriers].

Ann Endocrinol (Paris)

Aix-Marseille université, Institut national de la santé et de la recherche médicale (INSERM), U1251, Marseille Medical Genetics (MMG), Marseille, France; Assistance publique-Hôpitaux de Marseille (AP-HM), département d'endocrinologie, hôpital de la Conception, centre de référence des maladies rares de l'hypophyse HYPO, 13005, Marseille, France. Electronic address:

Published: September 2018

The management of pheochromocytoma and paraganglioma has deeply evolved over the last years due to the discovery of novel genes of susceptibility, especially SDHx, MAX and TMEM127. While the modalities of diagnosis and management of patients presenting with hereditary pheochromocytoma and paraganglioma are now well defined, screening and follow-up strategies for asymptomatic mutation carriers remain a matter of debate. This raises major questions as these asymptomatic patients will require a lifelong follow-up. The aim of this review is an attempt to give insights on the optimal screening and follow-up strategies of asymptomatic carriers of SDHx, MAX and TMEM127 mutations, with additional thoughts on the forensic and psychological aspects of the management of such patients with rare diseases.

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Source
http://dx.doi.org/10.1016/S0003-4266(18)31234-4DOI Listing

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