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Experts Recommend Blood, Urine Testing to Diagnose Rare Adrenal Tumors

June 5, 2014 By The Endocrine Society

Endocrine Society publishes Clinical Practice Guideline on pheochromocytomas, paragangliomas

The Endocrine Society today issued a Clinical Practice Guideline (CPG) for the diagnosis and treatment of two types of rare adrenal tumors – pheochromocytomas and paragangliomas – that can raise the risk of cardiovascular disease and even death if left untreated.

The CPG, entitled “Pheochromocytoma and Paraganglioma: An Endocrine Society Clinical Practice Guideline,” appeared in the June 2014 issue of the Journal of Clinical Endocrinology and Metabolism (JCEM), a publication of the Endocrine Society.

Pheochromocytomas are rare, usually noncancerous tumors that form inside the adrenal glands, while paragangliomas are similar tumors that develop outside the glands. The tumors cause the body to produce excess amounts of the hormones epinephrine – commonly known as adrenaline – and norepinephrine, which is involved in regulating blood pressure. Symptoms of these tumors include high blood pressure, episodic severe headaches, excess sweating, racing heart, feelings of anxiety and trembling.

Experts estimate between 0.1 and 1 percent of patients treated for high blood pressure have pheochromocytomas, according to the National Institutes of Health’s National Cancer Institute.

“Correctly diagnosing pheochromocytomas and paragangliomas is extremely important,” said Jacques W.M. Lenders, MD, PhD, FRCP, of Radboud University in Nijmegen, the Netherlands, and chair of the task force that authored the guideline. “In addition to the strain these tumors put on the cardiovascular system, between 10 and 17 percent of the tumors can become malignant. Researchers have discovered that at least a third of people with these conditions have a disease-causing genetic mutation, so early detection can benefit family members who may be at risk.”

In the CPG, the Endocrine Society recommends that initial testing for pheochromocytomas and paragangliomas include blood or urine tests for metanephrines – the products left behind when the body metabolizes epinephrine and norepinephrine. Research has shown blood and urine testing for metanephrines are more effective at identifying patients who have pheochromocytomas or paragangliomas than other testing techniques.

Other recommendations from the CPG include:

  • People who are diagnosed with pheochromocytomas or paragangliomas should be involved in a shared decision-making process with their physicians to evaluate the need for genetic testing;
  • A diagnostic algorithm that takes into account risk factors such as age at tumor presentation and family history should be used to establish which patients would benefit most from genetic testing and which specific gene mutations to test for;
  • People with paragangliomas and those diagnosed with metastatic tumors should be tested for specific gene mutations associated with those conditions;
  • Computed tomography can be used as the first choice imaging technology for determining the location of pheochromocytomas or paragangliomas for surgical treatment;
  • MRI imaging technology is to be used in specific situations, including for patients who have metastatic tumors, for detecting head and neck paragangliomas and for patients in whom radiation exposure should be limited; and
  • Another imaging technology, 18F-fluorodeoxyglucose-positron emission tomography/computed tomography, can be used in patients with metastatic tumors.

The Hormone Health Network offers resources on pheochromocytomas at http://www.hormone.org/diseases-and-conditions/heart-health-and-metabolism/hypertension#Pheochromocytoma.

Other members of the Endocrine Society task force that developed this CPG include: Quan-Yang Duh of the VA Medical Center and University of California, San Francisco; Graeme Eisenhofer of the University Hospital Dresden in Dresden, Germany; Anne-Paule Gimenez-Roqueplo of Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou and Université Paris Descartes in Paris, France; Stefan K.G. Grebe, Mohammad Hassan Murad and William F. Young, Jr. of the Mayo Clinic in Rochester, MN; Mitsuhide Naruse of National Hospital Organisation Kyoto Medical Center in Kyoto, Japan; and Karel Pacak of the Eunice Kennedy Shriver National Institute of Child Health & Human Development in Bethesda, MD.

The Society established the CPG Program to provide endocrinologists and other clinicians with evidence-based recommendations in the diagnosis and treatment of endocrine-related conditions. Each CPG is created by a task force of topic-related experts in the field. Task forces rely on scientific reviews of the literature in the development of CPG recommendations. The Endocrine Society does not solicit or accept corporate support for its CPGs. All CPGs are supported entirely by Society funds.

The CPG was co-sponsored by the American Association for Clinical Chemistry and the European Society of Endocrinology.

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