Pheochromocytoma, Dr. Mahmoud Naiem, internal medicine and endocrinology, overview on diagnosis, investigations, medical and surgical management options, perioperative care

1. Pheochromocytoma
By
Mahmoud Naiem

16. Etiology
•
Although the majority of
pheochromocytomas are sporadic,
approximately 30% result from inherited
mutations. To date, 10 genes associated
with pheochromocytoma and
paraganglioma have been identified

18. MEN 2A
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MEN 2A (Sipple syndrome) is characterized by the
following:
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Medullary thyroid carcinoma
•
Parathyroid adenoma
•
Pheochromocytomas
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Hirschsprung disease.

19. MEN 2B
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MEN 2B is characterized by the following:
•
Medullary thyroid carcinoma
•
Pheochromocytoma
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Mucosal neurofibromatosis
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Intestinal ganglioneuromatosis
•
Hirschsprung disease
•
Marfanoid body habitus

20. Von Hippel-Lindau syndrome
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VHL disease is associated with the following:
•
Pheochromocytoma
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Cerebellar hemangioblastoma
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Renal cell carcinoma
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Renal and pancreatic cysts
•
Epididymal cystadenomas
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One study found that this syndrome was present in nearly
19% of patients with pheochromocytomas.VHL disease is
caused by mutations in the VHL gene.
•
This gene encodes a protein that plays a role in cilia formation,
regulation of cellular senescence, and the oxygen-sensing
pathway.

58. •
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