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case6 - Case 6 Elise De Smet Charlotte Gistelinck Tom Sante...

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Case 6 Elise De Smet Charlotte Gistelinck Tom Sante Jan Verplancke Katrien Verwaest
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Case 6 Pheochromocytoma A catecholamine producing tumor .
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Signs & symptoms - Excess release of catecholamines and high levels of circulating catecholamines - norepinephrine or epinephrine -> usually both - Rarely: dopa and/or dopamine - released intermittently and not continuously in most cases - These secretions and the secretion pattern => responsible for the typical symptoms of feochromocytoma
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Typical symptoms - attacks characterized by: headache (50%), sweating (50%) and palpitations (50–60%) Also: pallor, anxiety, flank pain and skin sensations - catecholamines -> vasoconstriction -> hypertension: 50 % of the patients have permanent hypertension, the other 50 % has paroxysmal hypertension - orthostatic hypotension (easier to detect than paroxysmal hypertension)
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Other symptoms: - Localized amyloid deposits found microscopically - Elevated blood glucose level: - Catecholamines -> lipolysis -> high levels of FFA --| glucose uptake (by muscle cells) - + beta-adrenergic receptors -> glycogenolysis and gluconeogenesis - weight loss - catecholamines --| peristalsis -> severe constipation, pseudo-obstruction or ileus - malignant pheochromocytomas : symptoms from tumor infiltration and distant metastases - Not all patients experience all of the signs and symptoms listed
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Genetic Analysis When? Family history Age < 25 years Multifocal, bilateral adrenal Extra-adrenal Malignant disease
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VHL , von Hippel-Lindau RET, multiple endocrine neoplasia Paraganglioma PGL1 - SDHD gene PGL3 - SDHC gene PGL4 - SDHB gene NF1, neurofibromatosis other genes: KIF1B, GDNF
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Is he at increased risk for cancer ?
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  • Spring '10
  • JohanGrooten
  • Pheochromocytoma, Multiple endocrine neoplasia, Multiple endocrine neoplasia type 2, Familial pheochromocytoma, Pheochromocytoma Parathyroid tumours

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