Blood and urine tests ‘could diagnose rare adrenal tumours’

5 June 2014

The Endocrine Society has released a Clinical Practice Guideline (CPG) for the diagnosis and treatment of pheochromocytomas and paragangliomas, which are rare types of adrenal tumours that can increase the risk of cardiovascular disease and death.

Pheochromocytomas are uncommon, and usually non-cancerous, tumours that grow on the inside of the adrenal glands, while paragangliomas are similar but they develop outside. Both can cause the body to produce excess amount of the hormone epinephrine and norepinephrine, which is involved in blood pressure regulation.

According to the NHS, both of these types of tumours can sometimes be caused by inherited genetic disorders, such as multiple endocrine neoplasia (MEN), von Hippel-Lindau syndrome and neurofibromatosis. Patients can undergo surgery to remove the growth, but around one in ten of these experience a return of the tumour.

If they are left untreated they can cause  severe episodic headaches, excess sweating, a racing heart, high blood pressure, trembling and feelings of anxiety. The NHS states that these attacks may become more frequent, longer and more serious as the tumour grows. However, some people with pheochromocytomas and paragangliomas never experience symptoms. According to the National Cancer Institute at the National Institute of Health, scientists believe that between 0.1 and one per cent of patients being treated for high blood pressure have pheochromocytomas.

Jacques WM Lenders, chair of the committee that authored the guideline, titled ‘Pheochromocytoma and Paraganglioma: An Endocrine Society Clinical Practice Guideline’, said: "Correctly diagnosing pheochromocytomas and paragangliomas is extremely important.

"In addition to the strain these tumours put on the cardiovascular system, between ten and 17 per cent of the tumours 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."

The new guide recommends that initial testing for these specific tumours should include blood and urine tests that look for metanephrines, which are the byproducts left behind when the body metabolises epinephrine and norepinephrine. Previous studies have shown that these examinations are more effective at identifying patients who have pheochromocytomas or paragangliomas, compared to other techniques.

According to the recommendations, those diagnosed with this type of tumour should be involved in the decision-making process to evaluate the need for genetic testing. The CPG also suggests any diagnostic algorithm used should take into account the age of the patient and family history as this could dictate what gene mutations should be tested.

The Endocrine Society’s report suggests the use of computed tomography as the first choice for imaging technology when attempting to identify the location of the pheochromocytomas or paragangliomas for surgical treatment. In certain situations, magnetic resonance imaging (MRI) can also be used, including cases where the tumour has metastasised as this technique can detect paragangliomas in the head and neck.

According to the organisation, the CPGs are published to provide endocrinologists and other medical professionals with evidence-based recommendations in the diagnosis and treatment of endocrine-related conditions.

Posted by Jeanette Royston


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