Assessmentsvon Hippel-Lindau disease
von Hippel-Lindau disease
USMLE® Step 1 style questions USMLE
A 29-year-old man comes to the clinic due to headaches and feeling unstable. Over the past 6 months, the patient gradually has been falling more frequently. He has also been experiencing constant headaches which are worse in the morning. He denies any trauma and does not use alcohol illicit drugs. Medical history is notable for pheochromocytoma, treated with surgery 6 months ago. Vitals are within normal limits. On physical examination, he has difficulty ambulating or standing with feet close together. An MRI is obtained and shown below:
Reproduced from: Wikimedia Commons
Histopathological analysis of this patient's lesion would most likely show which of the following?
Content Reviewers:Yifan Xiao, MD
It codes for proteins that degrade hypoxia-inducible transcription factor, or HIF. HIF upregulates genes that code for platelet-derived and vascular endothelial growth factors, both of which promote new blood vessel formation and cell growth.
In VHL disease, this tumor suppressor gene is mutated which increases HIF, PDGF, VEGF, and ultimately the risk of tumor formation.
VHL disease is about as common as Huntington Disease, occurring in 1 in 36,000 people.
It is inherited in an autosomal dominant pattern, meaning that a VHL patient has a 50% chance of passing it on to each kid they have.
20% of VHL patients have a de novo or new mutation, meaning they are the first VHL patient in their family.
Alright, the most common tumor type in VHL is hemangioblastoma, a benign blood vessel tumor occurring in about 60% of VHL patients.
In the brain and spinal cord, a tumor or the accompanying cyst causes problems when it pushes against surrounding tissue.
Less common are benign cysts and cyst-like tumors called cystadenomas.
Some tumors associated with VHL can be cancerous.