A 33-year-old man presents to his primary care physician for episodic headaches, excessive sweating, and feeling panicked. These episodes started two months ago and happen intermittently without any discernible triggers. Past medical history is unremarkable, and he does not take any medications. Family history is significant for a brother with multiple central nervous system hemangioblastomas, and a mother who died intraoperatively at age 62 during a pheochromocytoma resection. Vital signs are within normal limits, and a physical examination is unremarkable.
Which of the following additional findings is this patient at increased risk of developing?
E) Renal cell carcinoma
The patient’s description of episodic headaches and sweating are concerning for a possible pheochromocytoma. The patient’s family history is concerning for von Hippel-Lindau (VHL) syndrome, which is an autosomal dominant mutation of a tumor suppressor gene. VHL commonly results in central nervous system hemangioblastomas, pheochromocytomas, and clear cell renal carcinoma. Patients with known VHL should undergo abdominal, brain, and spine MRI every 1-2 years to monitor for visceral and central nervous system lesions.
Answer choice A: Colorectal adenomas, is incorrect. Colorectal adenomas are common in patients with familial adenomatous polyposis (FAP). If left untreated, these lesions have a near 100% chance of progressing to colorectal cancer.
Answer choice B: Medullary thyroid carcinoma, is incorrect. Medullary thyroid carcinoma is associated with multiple endocrine neoplasia (MEN) types 2A and 2B. Other common features of MEN2A include pheochromocytoma and primary hyperparathyroidism. MEN2B is associated with pheochromocytomas, mucosal neuromas, and a marfanoid body habitus.
Answer choice C: Optic glioma, is incorrect. Optic gliomas are associated with neurofibromatosis type 1 (NF1), an autosomal dominant neurocutaneous disease. Other common features of NF1 include peripheral nerve sheath tumors and pheochromocytomas.
Answer choice D: Parathyroid tumors, is incorrect. Parathyroid tumors are associated with multiple endocrine neoplasia (MEN) types 1 and 2A. Other common features of MEN1 include pituitary tumors (often prolactin or growth hormone producing) and pancreatic tumors such as insulinomas, VIPomas, and glucagonomas.
Key Learning Point
Von Hippel-Lindau syndrome is an autosomal dominant disease associated with central nervous system hemangioblastomas, pheochromocytomas, and renal cell carcinomas. Pheochromocytomas are also associated with MEN2A/2B and NF1.
