CLINICAL STUDY Circumstances of discovery of phaeochromocytoma: a retrospective study of 41 consecutive patients Jean-Philippe Baguet, Laure Hammer, Ta ˆnia Longo Mazzuco 1 , Olivier Chabre 1 , Jean-Michel Mallion, Nathalie Sturm 2 and Philippe Chaffanjon 3 Department of Cardiology and Hypertension, 1 Department of Endocrinology, 2 Department of Pathology and 3 Department of Thoracic and General Surgery, Grenoble University Hospital, 38043 Grenoble Cedex 09, France (Correspondence should be addressed to J-P Baguet; Email: JPBaguet@chu-grenoble.fr) Abstract Objective: Phaeochromocytoma is a rare tumour of the chromaffin cells, the diagnosis of which is based on an assay of metanephrines and treatment is surgical excision of the tumour. It is usually discovered due to a rich and varied symptomatology or classic paroxysmal hypertension. The main purpose of this study was to specify the exact circumstances of discovery of the phaeochromocytomas operated on in our university hospital between 1990 and 2002. Design and methods: Forty-one consecutive and complete case reports of patients who had surgery for phaeochromocytoma were analysed retrospectively. This series includes 10 patients with a genetic disorder predisposing to phaeochromocytoma. Results: The association of headaches and palpitations with sweating was found in only 24% of cases (10/41). Blood pressure anomalies led to the discovery of phaeochromocytoma in only 51% of cases (21/41) and 59% (24/41) of all the patients suffered from hypertension. In almost half the cases (20/41), the tumour was discovered by an imaging method (ultrasonography, CT scan or MRI) which had been performed for reasons unrelated to a blood pressure abnormality. Conclusions: Phaeochromocytoma, the symptoms of which are not very specific and during which hypertension is present in only half the patients, is a disease that remains rare. Its incidence could be increasing because of changes in the method of detection. Indeed, in our study, different imaging techniques led to its incidental discovery in half of the cases. European Journal of Endocrinology 150 681–686 Introduction Phaeochromocytoma is a rare tumour (approximately one hypertensive subject in 1000) of the chromaffin cells which secrete catecholamines and/or their metab- olites (1). In 90% of cases it arises from the adrenal medulla but it may also be revealed in chromaffin cells of sympathetic paraganglia located throughout the body, from the neck to the bladder. Its prevalence is identical in both sexes and its incidence maximal between the ages of 40 and 60. It varies in size but rarely exceeds 60 mm along the long axis. It is bilateral in 10% of cases (20% in children) and usually (90%) benign. However, regardless of its histological aspect, the tumour cannot be assumed to be benign at the time of diagnosis. Extra-adrenal phaeochromocytomas, also called paragangliomas, are more often malignant (more than 30%) (2). In 20–30% of the cases, phaeo- chromocytoma is part of a genetic disease with autosomal dominant inheritance: multiple endocrine neoplasia (MEN) type 2, Von Hippel–Lindau’s disease (VHL), or neurofibromatosis type 1 (NF1, Von Reckling- hausen’s disease) (3, 4). Hormonal diagnosis is based on the measurements of urinary or plasma catecholamines or the catechol- amine metabolites metanephrines. The treatment of choice is surgical excision of the tumour. Although the prognosis for patients who have surgery for benign phaeochromocytoma is identical to that of healthy patients, the prognosis in cases of malignant phaeochromocytoma is poor. Hypertension, the classic condition leading to the discovery of phaeochromocy- toma, may be cured after surgical excision but persists in one-third of the patients who undergo surgery. The purpose of this study was to determine the cir- cumstances of discovery of phaeochromocytoma in 41 consecutive cases operated at the Grenoble University Hospital between 1990 and 2002. European Journal of Endocrinology (2004) 150 681–686 ISSN 0804-4643 q 2004 Society of the European Journal of Endocrinology Online version via http://www.eje.org