Clinical consensus guideline on the management of phaeochromocytoma and paraganglioma in patients harbouring germline SDHD pathogenic variants

David Taïeb, George B. Wanna, Maleeha Ahmad, Charlotte Lussey-Lepoutre, Nancy D. Perrier, Svenja Nölting, Laurence Amar, Henri J. L. M. Timmers, Zachary G. Schwam, Anthony L. Estrera, Michael Lim, Erqi Liu Pollom, Lucas Vitzthum, Isabelle Bourdeau, Ruth T. Casey, Frédéric Castinetti, Eleonora P. M. Corssmit, Roderick Clifton-Bligh, Ronald R. de Krijger, Jaydira Del RiveroGraeme Eisenhofer, Hans K. Ghayee, Anne-Paule Gimenez-Roqueplo, Ashley Grossman, Alessio Imperiale, Jeroen C. Jansen, Abhishek Jha, Michiel N. Kerstens, Henricus P. M. Kunst, James K. Liu, Eamonn R. Maher, Daniele Marchioni, Leilani B. Mercado-Asis, Ozgur Mete, Mitsuhide Naruse, Naris Nilubol, Neeta Pandit-Taskar, Frédéric Sebag, Akiyo Tanabe, Jiri Widimsky, Leah Meuter, Jacques W. M. Lenders, Karel Pacak

Research output: Contribution to journalReview articlepeer-review


Patients with germline SDHD pathogenic variants (encoding succinate dehydrogenase subunit D; ie, paraganglioma 1 syndrome) are predominantly affected by head and neck paragangliomas, which, in almost 20% of patients, might coexist with paragangliomas arising from other locations (eg, adrenal medulla, para-aortic, cardiac or thoracic, and pelvic). Given the higher risk of tumour multifocality and bilaterality for phaeochromocytomas and paragangliomas (PPGLs) because of SDHD pathogenic variants than for their sporadic and other genotypic counterparts, the management of patients with SDHD PPGLs is clinically complex in terms of imaging, treatment, and management options. Furthermore, locally aggressive disease can be discovered at a young age or late in the disease course, which presents challenges in balancing surgical intervention with various medical and radiotherapeutic approaches. The axiom-first, do no harm-should always be considered and an initial period of observation (ie, watchful waiting) is often appropriate to characterise tumour behaviour in patients with these pathogenic variants. These patients should be referred to specialised high-volume medical centres. This consensus guideline aims to help physicians with the clinical decision-making process when caring for patients with SDHD PPGLs.

Original languageEnglish
Pages (from-to)345-361
Number of pages17
JournalThe Lancet Diabetes and Endocrinology
Issue number5
Early online date31 Mar 2023
Publication statusPublished - May 2023


  • Humans
  • Adrenal Gland Neoplasms/diagnosis
  • Germ-Line Mutation/genetics
  • Paraganglioma/diagnosis
  • Pheochromocytoma/diagnosis
  • Succinate Dehydrogenase/genetics
  • Practice Guidelines as Topic


Dive into the research topics of 'Clinical consensus guideline on the management of phaeochromocytoma and paraganglioma in patients harbouring germline SDHD pathogenic variants'. Together they form a unique fingerprint.

Cite this