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The hypertension is reversible in about two-thirds of cases but persists or returns in spite of surgery in the remainder The prognosis is much improved by early diagnosis and treatment Only 2% of aldosterone-secreting adrenal tumors are malignant The low renin levels found in this condition (and in about 25% of cases of essential hypertension) also imply a relatively good prognosis
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Tiu SC et al The use of aldosterone-renin ratio as a diagnostic test for primary hyperaldosteronism and its test characteristics under different conditions of blood sampling J Clin Endocrinol Metab 2005 Jan;90(1):72 8 [PMID: 15483077] Vasan RS et al Serum aldosterone and the incidence of hypertension in nonhypertensive persons N Engl J Med 2004 Jul 1;351(1):33 41 [PMID: 15229305] Young WF et al Role for adrenal venous sampling in primary aldosteronism Surgery 2004 Dec;136(6):1227 35 [PMID: 15657580]
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DISEASES OF THE ADRENAL MEDULLA & PARAGANGLIA PHEOCHROMOCYTOMA
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Attacks of headache, perspiration, palpitations, anxiety Hypertension, frequently sustained but often paroxysmal, especially during surgery or delivery Elevated urinary catecholamines or their metabolites Normal serum T4 and TSH
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All of the complications of chronic hypertension are encountered in primary hyperaldosteronism Progressive renal damage is less reversible than hypertension Following unilateral adrenalectomy for Conn s syndrome, suppression of the contralateral adrenal may result in temporary postoperative hypoaldosteronism, characterized by hyperkalemia and hypotension
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Pheochromocytomas are tumors that arise from the adrenal medulla, while paragangliomas ( extra-adrenal pheochromocytomas ) are related tumors that arise from sympathetic paraganglia These tumors are a rare cause of hypertension, being found in less than 03% of hypertensive individuals The incidence is higher in patients with moderate to severe hypertension About two new cases per million population are diagnosed annually However, in autopsy cases, the incidence
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Some patients are normotensive and asymptomatic Others presenting symptoms and signs include psychosis or confusion, seizures, hyperglycemia, bradycardia, hypotension, constipation, paresthesias, or Raynaud s phenomenon Physical findings usually include hypertension (90% of patients), which may be sustained (20% of patients), sustained with paroxysms (50% of patients), or paroxysmal only (25% of patients) There may be cardiac enlargement and cardiomyopathy, postural tachycardia (change of more than 20 beats/min) and postural hypotension, and mild elevation of basal body temperature Retinal hemorrhage or cerebrovascular hemorrhage occurs occasionally Catastrophic hypertensive crisis and fatal cardiac arrhythmias can occur spontaneously or may be triggered by intravenous contrast dye or glucagon injection, needle biopsy of the mass, anesthesia, and surgical procedures In addition to catecholamines and their metabolites, pheochromocytomas secrete a wide range of other peptides that can sometimes cause symptoms of Cushing s syndrome (ACTH), erythrocytosis (erythropoietin), or hypercalcemia (PTHrP)
of pheochromocytoma is 250 1300 cases per million, indicating that most cases are not diagnosed during life The hypertension is caused by excessive plasma levels of norepinephrine or neuropeptide Y The tumor is located in either or both adrenals or anywhere along the sympathetic nervous chain, and rarely in such aberrant locations as the thorax, bladder, or brain Pheochromocytomas are characterized by a rough rule of tens : About 10% of cases are not associated with hypertension; 10% of cases are extra-adrenal, and of those about 10% of cases are extra-abdominal; 10% of cases occur in children In about 10% of cases, the tumor involves both adrenal glands (bilateral adrenal tumors tend to occur more frequently in familial cases); and about 10% of cases have metastatic disease noted around the time of diagnosis Initially occult metastases are later discovered in another 5% of cases Familial pheochromocytomas are usually bilateral (70% of cases) but may present as unilateral pheochromocytoma with a contralateral pheochromocytoma appearing years later; they may be associated with the following: calcitoninsecreting medullary thyroid carcinoma and hyperparathyroidism (MEN type 2), medullary thyroid carcinoma and the syndrome of multiple mucosal neuromas (MEN type 2B), sussinate dehydrogenase gene mutations (see below), neurofibromatosis (Recklinghausen s disease), and islet cell tumors (rare) Pheochromocytomas develop in about 20% of patients with von Hippel Lindau disease (hemangiomas of the retina, cerebellum, brainstem, and spinal cord; pancreatic cysts; renal cysts, adenomas, and carcinomas); inheritance is autosomal dominant Familial paragangliomas arise in patients harboring pathologic sequence variants in the succinate dehydrogenase gene subunits: SDHB, SDHC, and SDHD Multiple paragangliomas typically arise at an early age and are often malignant Only about 10% of affected patients have a family history of pheochromocytoma or paraganglioma However, family histories are unreliable and phenotypic penetrance is variable About 20 30% of these patients harbor germline mutations, making such patients prone to development of additional tumors
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