It arises from chromaffin cells of the medulla of the adrenal gland, but it can also be located in extraadrenal, retroperitoneal, pelvic or thoracic sites. Lenders plasma catecholamines and essential hypertension. Advances in genetics, diagnosis, localization, and treatment pheochromocytomas are rare, catecholaminesecreting tumors arising most frequently in the chromaffin. The first step in management of pheochromocytoma is to think of this rare disease and to then make the diagnosis manger, 2006.
The early diagnosis of pheochromocytoma is important, not only because it offers the possibility of curing hypertension but also because unrecognized pheochromocytoma is a potentially lethal condition. Pheochromocytoma update on disease management roland darr, jacques w. Pheochromocytoma diagnosis after an abnormal stress test. Axial computed tomographic image of an asymptomatic patient with an incidentally discovered 5cm left adrenal pheochromocytoma arrow. Childhood pheochromocytoma and paraganglioma treatment.
The low pretest prevalence of pheochromocytomaclose to 0. Diagnosis, localization, and treatment provides a comprehensive update on the improvements in the diagnosis, localization, management and treatment of pheochromocytomas providing you with the latest cutting edge science alongside best clinical practice. Advances in genetics, diagnosis, localization, and treatment pheochromocytomas are rare, catecholaminesecreting tumors. Epidemiology, clinical presentation, diagnosis, and histology. Measurement of plasma free fractionated metanephrines metanephrine and normetanephrine is usually the diagnostic tool of choice when the. The goal of this study is to develop better methods of diagnosis, localization, and treatment for pheochromocytomas. Care should be taken to rule out other causes of adrenergic adrenalinelike excess like hypoglycemia, stress, exercise, and drugs affecting the catecholamines like stimulants, methyldopa, dopamine agonists, or ganglion blocking antihypertensives. Diagnosed by increased levels of urine and serum catecholamines, metanephrines, and normetanephrines. Recent advances in genetics, diagnosis, localization, and. Improvements in diagnosis, localization, management, and treatment of pheochromocytomas and catecholamineproducing paragangliomas are being driven by recent leaps in understanding of the genetics.
Computed tomography and magnetic resonance imaging have good sensitivity but poor specificity for detecting pheochromocytoma, and nuclear imaging approaches such as 1 imetaiodobenzylguanidine scintigraphy have limited sensitivity. Biochemical testing should be performed in symptomatic patients, patients with an adrenal incidentaloma and those who have a hereditary risk for developing a pheochromocytoma. Pheochromocytoma and paraganglioma are rare tumors that come from the same type of tissue. Diagnosis of pheochromocytoma and paraganglioma relies on biochemical evidence of catecholamine production by the tumor. N2 this hypertension grand rounds shows how applying new clinical laboratory techniques helped to diagnose pheochromocytoma in a difficult case. Diagnosis of pheochromocytoma in the setting of parkinson. In approximately 60 percent of patients, the tumor is discovered incidentally during computed tomography ct or magnetic resonance imaging mri of the abdomen for unrelated symptoms. Conventional imaging modalities that have been used in the preoperative evaluation of patients with a biochemically confirmed pheochromocytoma include ct, mri, and 1 imetaiodobenzylguanidine 1 imibg scintigraphy. Diagnosis and management of pheochromocytoma recent. Diagnosis relies on measurement of plasma levels of free metanephrines.
When confined to the adrenal glands, and especially if suspected clinically, the diagnosis is readily. Pheochromocytoma clinical chemistry oxford academic. Pheochromocytomas are rare tumors that usually form in your adrenal glands. Appropriate treatment of pheochromocytoma depends on tumor localization after biochemical confirmation of the diagnosis. Measurement of norepinephrine and 3,4dihydroxyphenylglycol in urine and plasma for the diagnosis of pheochromocytoma. Diagnosis of a pheochromocytoma is confirmed by biochemical evidence in the plasma or urine of catecholamine production by the tumor. Jan 01, 2005 read biochemical diagnosis, localization and management of pheochromocytoma. Phaeochromocytomas are rare neuroendocrine tumours with a highly variable clinical presentation but most commonly presenting with episodes of headaches, sweating, palpitations, and hypertension. The diagnosis of paraganglioma and pheochromocytoma relies on the biochemical documentation of excess catecholamine secretion coupled with imaging studies for localization and staging. Before you undergo surgery, your doctor will prescribe specific blood pressure medications that block the actions of the highadrenaline hormones to lower the risk of developing dangerously high blood pressure during surgery. Patrick ober, md pheochromocytoma, although rare, is a potentially lifethreatening disease that if recognized early by the physician can be managed with minimal morbidity. Metyrosine and pheochromocytoma jama internal medicine. The nanets consensus guideline for the diagnosis and.
Treatment of pheochromocytoma depends critically on accurate localization as it confirms tumor sites and helps in surgical strategy. These tumors, which usually arise from the adrenal glands, are often difficult to detect with current methods. A case report of a pheochromocytoma presenting with. Pheochromocytoma is a rare adrenal gland tumor with an estimated incidence of 1 to 2 per 100,000 persons. The diagnosis and treatment of pheochromocytoma depend critically on effective means to localize the tumor. The diagnosis can be established by measuring catecholamines and metanephrines in plasma blood or through a 24hour urine collection. Certain inherited disorders and changes in certain genes increase the risk of pheochromocytoma or. The manifestations are diverse and the tumor can mimic a variety of conditions, often resulting in either erroneous diagnoses or a delayed diagnosis. First, the finding of a high plasma level of free unconjugated normetanephrine constituted the initial and only biochemical indication of a pheochromocytoma. Your doctor may be able to do this using tiny cuts instead of one large opening. As a general rule tumors in the adrenal region tend to be large at presentation, usually 3 cm, with an average size of 5 cm.
Prompt diagnosis is, therefore, essential for effective treatment, usually by surgical resection. They also provide their opinions on the role of genetic testing in the diagnosis and management of patients with these tumors. The surgical approach to malignant pheochromocytoma is not curative, but resection of a primary mass or metastases can reduce hormonal effects on the cardiovascular system and may also be appropriate for lesions present in critical anatomical locations. Biochemical diagnosis, localization and management of. Pheochromocytoma, catecholamine metabolites, surgical treatment. However, their presentation is highly variable and can mimic many other diseases. Pheochromocytoma treatment youll most likely need surgery to remove the tumor. Pheochromocytoma is a rare neuroendocrine tumor, occurring in less than 0.
Pheochromocytoma is a rare but extremely treacherous neuroendocrine tumor, usually occurring in the adrenals but sometimes elsewhere in the abdomen, pelvis, chest, neck, and head. Pheochromocytoma update on disease management roland. Biochemical diagnosis of a pheochromocytoma establishing the diagnosis of a pheochromocytoma requires biochemical evidence of catechol. Pheochromocytoma characteristics and behavior differ depending on method of discovery. If a pheochromocytoma isnt treated, severe or lifethreatening damage to other body systems can result. Pdf recent advances in genetics, diagnosis, localization. Pheochromocytoma is a rare tumor that forms in the adrenal medulla the center of the adrenal gland.
Hypertension and incidentaloma pheochromocytoma is a rare cause of hypertension, but important because it is a usually curable cause of high blood pressure. Recent advances in genetics, diagnosis, localization, and treatment of pheochromocytoma. See pheochromocytoma in genetic disorders and treatment of pheochromocytoma in adults and paragangliomas. A pheochromocytoma is a tumor that results in excess secretion of the catecholamines epinephrine and norepinephrine. Diagnosis and localization of pheochromocytoma hypertension.
The serious and potentially lethal cardiovascular complications of these tumours are due to the potent effects of secreted catecholamines. Biochemical testing for phaeochromocytoma is indicated not. Epidemiology catecholaminesecreting tumors are rare neoplasms, probably occurring in less than 0. Jun 03, 2016 read or download here pheochromocytoma.
Recent advances in the diagnosis and treatment of pheochromocytoma. The early diagnosis of pheochromocytoma is important, not only because it offers the possibility of curing hypertension but also because unrecognized pheochromocytoma is a potentially lethal condit. Most pheochromocytomas are discovered in people between the ages of 20 and 50. Case presentation a 34yearold woman presented to the emergency department with acute onset headache, shortness of breath, and chest tightness with anxiety. Speakers are also expected to openly disclose intent to discuss any off label, experimental, or investigational use of drugs, devices, or equipment in their presentations. Pheochromocytoma update on disease management roland darr. The classic clinical manifestation includes hypertension, which may be episodic or refractory in association with the triad of symptoms of palpitations, headaches, and diaphoresis. Bornstein, and graeme eisenhofer therapeutic advances in endocrinology and metabolism 2012 3. Diagnosis and localization of pheochromocytoma article pdf available in hypertension 435. Typical clinical manifestations are sustained or paroxysmal hypertension, severe headaches, palpitations and sweating resulting from hormone excess. Buters and others have suggested that analysis of free metanephrines metadrenalines normetanephrine and metanephrine in blood plasma is the most accurate test for detecting pheochromocytoma urine tests. Learn more about the symptoms, causes, treatments, and diagnosis including tests of pheochromocytoma.
Although this test is slightly less effective than plasma testing it is still considered highly effective in diagnosis. Sensitivity of diagnostic and localization tests for. It causes manifestations by secreting catecholamines into the circulation. Learn more about the symptoms, triggers, complications, causes, diagnosis, treatment, and prognosis for pheochromocytomas. Treatment of pregnant patients with pheochromocytoma is highrisk and must be individualized. There are no data documenting that surgical debulking results in improved survival or reduction in symptoms. Symptoms include headache, sweating, palpitations, elevated blood pressure, anxiety, nausea, tremors and more. Diagnosis and localization of pheochromocytoma johns. Pheochromocytoma current concepts in diagnosis and. The diagnosis of pheochromocytoma is dependent on the imaging identification of an appropriately located mass with accompanying clinical and biochemical confirmation. The occurrence of the tumor is rare, and it is often difficult to diagnose.
Diagnosis, localization, and treatment by karel pacak, graeme eisenhofer, jacques w. Phaeochromocytoma investigations bmj best practice. The neuroendocrine tumor pheochromocytoma is usually detected via measurement of levels of catecholamines and their metabolites in plasma and urine. Before you undergo surgery, your doctor will prescribe specific blood pressure medications that block the actions of the highadrenaline hormones to lower the risk of developing. This case illustrates several scientific and practical points related to the diagnosis, localization, and management of pheochromocytoma. Before you have surgery, your doctor will likely prescribe specific blood pressure medications that block the actions of the highadrenaline hormones to lower the risk of developing dangerously high blood pressure during surgery. Reflecting the recent leaps in understanding this condition, pheochromocytoma. Pheochromocytoma diagnosis and treatment mayo clinic. Tragically, up to 50% of pheochromocytomas are discovered at autopsy, mainly because this tumor was not considered. Measurement of plasma metanephrine and normetanephrine concentrations has recently been acknowledged as one of the leading tests for the diagnosis of the neuroendocrine tumor, pheochromocytoma 1. Thoracic paragangliomas are rare and only account for 12% of all cases of pheochromocytoma. Martin on july 11, 2018 how likely is a parent able to pass a pheochromocytoma to their child. Localization should be initiated after unequivocal biochemical evidence of a pheochromocytoma and is targeted at locating both primary and metastatic disease.
Diagnosis of a pheochromocytoma columbia university. Biochemical testing should be performed in symptomatic patients, patients with an adrenal incidentaloma and those who have a hereditary risk for developing a pheochromocytoma or paraganglioma. Severe hemodynamic instability may occur during surgery for removal of pheochromocytoma, unless there is preoperative pharmacological treatment. Recent developments in the diagnosis and treatment of pheochromocytoma. Molecular genetic abnormalities associated with pheochromocytoma. Presents with palpitations, diaphoresis, pallor, and paroxysmal hypertension.