A Five-Year Report on Experience in the Detection of Pheochromocytoma
Introduction
Pheochromocytoma is a catecholamine secreting tumor that arises from the chromaffin cells of the sympathoadrenal system and is a rare cause of secondary hypertension. Its diagnosis is important because the hypertension is usually curable by resection of the tumor, whereas the condition is potentially lethal if untreated. It occurs in 0.1% to 0.5% of patients with hypertension, with an incidence in the general population of 1 in 200,000 (1).
In a 50-yr autopsy series of 40078 patients at the Mayo Clinic, the prevalence of pheochromocytoma was 0.13% (2) and the prevalence of this disorder in the population of patients with an incidentally discovered adrenal mass was estimated to be 50 times higher or 6.5%.
Diagnosis or exclusion of potential pheochromocytoma is important before any surgical procedure because appropriate preparation is vital and intraoperative management is different for pheochromocytoma from that of other adrenal lesions 3, 4.
The clinical suspicion of a pheochromocytoma may be suggested by certain clinical signs and symptoms, especially hypertension with a characteristic triad: headache, diaphoresis, and palpitations. Perhaps, the most important confirmation study is the biochemical finding of excessive catecholamine production by the tumor, and radiologic studies for the localization of a suspected mass.
The biochemical tests for pheochromocytoma are based on detecting abnormally increased levels of several different free catecholamines or metabolites in urine or blood 3, 5, 6 and are routinely used in the evaluation of hypertension patients. They are: the measurement of the 24-h urinary excretion of free catecholamines [norepinephrine (NE), epinephrine (E), dopamine (DA)], and the metabolites such as total metanephrines (MNt) (free plus conjugated), and 3-methoxy-4-hydroxymandelic acid (VMA) 3, 5.
Recently, there has been much controversy regarding the methods of diagnosis 5, 6, 7, 8, 9. The aim of this retrospective study is to review our experience with 57 patients with pheochromocytoma in a large population of patients with hypertension suspected of having a pheochromocytoma and to identify specific tests that have good sensitivity, specificity, and positive and negative predictive values (PPV and NPV).
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Patients
The patients’ database for this report includes 3826 patients who were examined at several community centers in Murcia and referred to the University Hospital “Virgen de la Arrixaca” (Murcia, Spain) by their physicians because hypertension was severe, resistant, or associated with diabetes or paroxysmal symptoms (1), between January 1994 and December of 1998.
All patients were evaluated by clinical history assessment and 24-h urinary collections for measurement of free catecholamines and
Results
We retrospectively evaluated our experience with pheochromocytoma from January 1994 to December 1998. Fifty-seven patients with surgically and histologically proven pheochromocytomas were found over 5 years from 3826 patients referred for tumor screen for suggested hypertension.
The patients were divided into the following groups: familial (MEN 2A), 9 patients (15.9%), sporadic tumor, 47 patients (82.5%), and neurofibromatosis type I (1.6%), 1 patient. The prevalence rate was 1.49% (range,
Discussion
The prevalence rate of 1.49%, is nearly 4- to 5-fold more than the suggested prevalence of the tumor in the literature for the hypertension population at large (1).
This study of 57 patients with histologically documented pheochromocytoma showed that at the time of diagnosis, the familial patients were younger than the sporadic patients. This was due to the high suspicion level and the screening of family members, which permitted diagnosis before clinical manifestations were seen (14). As in
Acknowledgements
The enthusiasm of the technicians of hormones laboratory and excellent suggestions made by Dr. Juan Rosique, are gratefully acknowledged.
References (26)
- et al.
Quantitative determination of 3-methoxy-4-hydroxymandelic acid (VMA) in urine
Clin Chem Acta
(1967) - et al.
Recent development in the diagnosis and treatment of pheochromocytoma
Mayo Clin Proc
(1990) - et al.
The neuronal and extraneuronal origins of plasma 3-methoxy-4-hydroxyphenylglycol in rats
J Auto Nerv Syst
(1994) - et al.
Clinical and genetic characterization of pheochromocytoma in Von Hippel–Lindau familiesComparison sporadic pheochromocytoma gives insight into natural history of pheochromocytoma
J Urol
(1999) - et al.
Current concepts. Pheochromocytomadiagnosis, localization and management
N Engl J Med
(1984) - et al.
Prevalence of clinically unsuspected pheochromocytoma
Mayo Clin Proc
(1981) Evolving concepts in the pathophysiology, diagnosis, and treatment of pheochromocytoma
Endocr Rev
(1994)- et al.
Influence of preoperative treatment with phenoxybenzamine on the incidence of adverse cardiovascular reactions during anesthesia and surgery for pheochromocytoma
Acta Anaesthesiol Scand
(1985) - et al.
Laboratory diagnosis of pheochromocytomawhich analytes should we measure?
Ann Clin Biochem
(1993) - et al.
Plasma and 24-h urinary catecholamine concentrations in normal and patient populations
Ann Clin Biochem
(1993)
Plasma or urinary metanephrines for the diagnosis of pheochromocytoma? That is the question
Ann Intern Med
Plasma metanephrine in the diagnosis of pheochromocytoma
Ann Intern Med
The urinary metanephrine-to-creatinine ratio for diagnosis of pheochromocytoma
Ann Intern Med
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2014, Pediatric Endocrinology: Fourth EditionSimultaneous electrochemical detection of the catecholamines and ascorbic acid at PEDOT/S-β-CD modified gold electrodes
2012, Journal of Electroanalytical ChemistryCitation Excerpt :We obtained a LoD of 1.8 × 10−7 M for DA in spiked human urine samples. Patients with neuroendocrine tumours excrete elevated levels of catecholamines in urine [69] which can be comfortably detected by the PEDOT/S-β-CD sensor. The LoD reported here compares favourably to those reported previously, for CD modified electrodes, which range from 10−7 to 10−5 M in non-biological solutions [58,59,70–72], and 10−7 M in biological samples [73,74].