DIAGNOSIS OF ENDOCRINE DISEASE: Biochemical diagnosis of phaeochromocytoma and paraganglioma

• Published in: European journal of endocrinology Vol. 170; no. 3; pp. R109 - R119
• Main Authors: van Berkel, A, Lenders, J W M, Timmers, H J L M
• Format: Journal Article
• Language: English
• Published: Bristol Bioscientifica Ltd 01.03.2014; BioScientifica
• Subjects: Adrenal Gland Neoplasms - diagnosis; Adrenal Gland Neoplasms - metabolism; Adrenal Gland Neoplasms - pathology; Adrenals. Adrenal axis. Renin-angiotensin system (diseases); Adult; Biological and medical sciences; Biomarkers, Tumor - analysis; Catecholamines - metabolism; Catecholamines - urine; Dopamine - analogs & derivatives; Dopamine - biosynthesis; Dopamine - blood; Endocrinopathies; False Negative Reactions; False Positive Reactions; Fundamental and applied biological sciences. Psychology; Humans; Medical sciences; Metanephrine - blood; Metanephrine - urine; Middle Aged; Neurology; Non tumoral diseases. Target tissue resistance. Benign neoplasms; Normetanephrine - blood; Normetanephrine - urine; Paraganglioma - diagnosis; Paraganglioma - metabolism; Paraganglioma - pathology; Pheochromocytoma - diagnosis; Pheochromocytoma - metabolism; Pheochromocytoma - pathology; Review; Tumors of the nervous system. Phacomatoses; Vertebrates: endocrinology; Secretory tumor; Endocrinopathy; Nervous system diseases; Pheochromocytoma; Diseases of the autonomic nervous system; Paraganglioma; Biochemistry; Diagnosis; Endocrinology
• ISSN: 0804-4643; 1479-683X
• DOI: 10.1530/EJE-13-0882

Adrenal phaechromocytomas and extra-adrenal sympathetic paragangliomas (PPGLs) are rare neuroendocrine tumours, characterised by production of the catecholamines: noradrenaline, adrenaline and dopamine. Tumoural secretion of catecholamines determines their clinical presentation which is highly variable among patients. Up to 10–15% of patients present entirely asymptomatic and in 5% of all adrenal incidentalomas a PPGL is found. Therefore, prompt diagnosis of PPGL remains a challenge for every clinician. Early consideration of the presence of a PPGL is of utmost importance, because missing the diagnosis can be devastating due to potential lethal cardiovascular complications of disease. First step in diagnosis is proper biochemical analysis to confirm or refute the presence of excess production of catecholamines or their metabolites. Biochemical testing is not only indicated in symptomatic patients but also in asymptomatic patients with adrenal incidentalomas or identified genetic predispositions. Measurements of metanephrines in plasma or urine offer the best diagnostic performance and are the tests of first choice. Paying attention to sampling conditions, patient preparation and use of interfering medications is important, as these factors can largely influence test results. When initial test results are inconclusive, additional tests can be performed, such as the clonidine suppression test. Test results can also be used for estimation of tumour size or prediction of tumour location and underlying genotype. Furthermore, tumoural production of 3-methoxytyramine is associated with presence of an underlying SDHB mutation and may be a biomarker of malignancy.