Diagnosis of Multiple endocrine neoplasia type 2
Multiple endocrine neoplasia type 2 Diagnosis: Book Excerpts
Diagnostic Tests for Multiple endocrine neoplasia type 2: Online Medical Books
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Multiple endocrine neoplasia:
Diagnosis
(Professional Guide to Diseases (Eighth Edition))
Investigating symptoms of pituitary tumor, hypoglycemia, hypercalcemia, or GI hemorrhage may lead to a diagnosis of MEN. Diagnostic tests must be used to carefully evaluate each affected endocrine gland. For example, radioimmunoassay showing increased levels of gastrin in patients with peptic ulceration and Zollinger-Ellison syndrome suggests the need for follow-up studies for MEN I because 50% of patients with Zollinger-Ellison syndrome have MEN. After confirmation of MEN, family members must also be assessed for this inherited syndrome.
Magnetic resonance imaging or computed tomography scan of the abdomen may show pancreatic tumor. Insulin test may show increased levels and fasting blood sugar may be low.
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Source: Professional Guide to Diseases (Eighth Edition), 2005
Pheochromocytoma:
Diagnosis
(Professional Guide to Diseases (Eighth Edition))
The most common presentation for pheochromocytoma is continuous hypertension with or without orthostatic hypotension. A history of acute episodes of hypertension, headache, sweating, and tachycardia — particularly in a patient with hyperglycemia, glycosuria, and hypermetabolism — strongly suggests pheochromocytoma. A patient who has intermittent attacks may have no symptoms during a latent phase. The tumor is rarely palpable; when it is, palpation of the surrounding area may induce an acute attack and help confirm the diagnosis. Generally, diagnosis depends on laboratory findings.
Confirming diagnosis Increased urinary excretion of total free catecholamines and their metabolites, vanillylmandelic acid (VMA) and metanephrine, as measured by analysis of a 24-hour urine specimen, confirms pheochromocytoma.
Labile blood pressure necessitates urine collection during a hypertensive episode and comparison of this specimen with a baseline specimen. Direct assay of total plasma catecholamines shows levels 10 to 50 times higher than normal.
Provocative tests with glucagon and phentolamine suggest the diagnosis; however, because they may precipitate a hypertensive crisis or induce a false-positive or false-negative result, they’re seldom used. The clonidine suppression test will cause decreased plasma catecholamine levels in normal patients but no change in those with pheochromocytoma. After demonstrating biochemical evidence of pheochromocytoma, computed tomography scan or magnetic resonance imaging of the abdomen (where 95% of pheochromocytomas are located) is warranted. If a tumor isn’t located — or if there is more than one — a radioactive iodine metaiodobenzylguanidine scintiscan or nuclear scan usually confirms the diagnosis in unclear cases. Angiography and excretory urography are no longer used; adrenal venography is used, but rarely.
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Source: Professional Guide to Diseases (Eighth Edition), 2005
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