Von-Hippel Lindau Disease for the ABR Core Exam
Review of key topics on Von-Hippel Lindau Disease for the ABR Core Exam. Check out the free study guide on Von-Hippel Lindau disease available at www.theradiologyreview.com. The Radiology Review = your favorite radiology podcast for board preparation.
Von-Hippel Lindau Disease for the Core Exam
· Autosomal dominant mutation of tumor suppressor gene on chromosome 3
· Usually presents in early adulthood, but may find earlier if known family history
· Different VHL subtypes exist (type 1, type 2A-C) but I don’t think they are likely to ask you about these on the ABR Core Exam
· Sites of disease are CNS/head and abdominal
· Diagnosis requires
o Retinal and CNS hemangioblastoma (multiple hemangioblastomas=VHL), or
o Hemangioblastoma and one of the following:
§ Cysts in kidney, liver, pancreas, or epididymis
§ Renal malignancy
§ Pheochromocytoma
o Or family history and one of the following
§ Hemangioblastoma of any site
§ Renal malignancy
§ Pheochromocytoma
· Classic findings in VHL
o Hemangioblastomas (most VHL patients will develop these)
§ Cerebellum most common
· May be bilateral
· Usually in posterior fossa off midline
§ Can be retinal (retinal angioma)
§ Most common in cerebellum>retina>spinal cord>brain stem
§ On imaging a hemangioblastoma looks like a cyst with a soft tissue mural nodule
· The soft tissue component is fluid secreting, hence the cystic appearance
· These tend not to calcify
· Nodule tends to be very vascular
§ Adult with infratentorial cystic mass with enhancing nodule think hemangioblastoma and VHL (especially if multiple)
· Child with infratentorial cystic mass with enhancing nodule think pilocytic astrocytoma
§ Spinal cord hemangioblastomas are most common in thoracic cord, classic look is a widened spinal cord with edema, serpiginous draining meningeal varices, flow voids
o Cysts of pancreas, kidneys, liver
o Renal malignancies
§ Typically, clear cell renal cell carcinoma
§ May be multiple and bilateral
· Think VHL if they show you multiple or bilateral RCCs
§ Treatment is surgical resection
§ Renal angiomyolipomas also associated with VHL but know that the classic renal manifestation of VHL is bilateral renal cell carcinomas
o Pheochromocytomas
o Paraganglioma
§ Paragangliomas are extra-adrenal pheochromocytomas
§ VHL: pheochromocytoma more common than paraganglioma
§ Multiple paragangliomas may be seen in MEN2 or VHL
o Cystadenomas of epididymis or round ligament
o Pancreas
§ Pancreatic cysts are very common in VHL and very rare in practice so if you see multiple pancreatic cysts consider possibility of VHL
§ Neuroendocrine islet cell tumors may also arise
· About 10% of VHL patients get these, may be multiple
· Hypervascular tumors with arterial enhancement
o Associated with VHL and MEN1
§ Pancreatic serious cystadenoma
· These are microcystic and may show calcification with stellate scar
§ Pancreatic adenocarcinoma is typically not associated with VHL
o Adrenal gland
§ Pheochromocytoma
· 20% of all pheochromocytomas arise with VHL
· Bilateral pheochromocytomas think VHL
· Remember workup can include VMA and norepinephrine levels, nuclear MIBG scan
o Endolymphatic sac tumor
§ Locally aggressive permeative tumor with risk of hearing loss
· Often present with hearing loss and tinnitus
§ Occur in about 15% of VHL patients
§ Bilateral endolymphatic sac tumors are pathognomonic for VHL
§ Look for erosion of the petrous apex with “moth eaten” pattern on CT with associated enhancing mass
§ May be cystic with peripheral vascular mass
· May see flow voids and tumor blush on angiography
§ CT typically shows internal calcifications
§ Treat with surgical excision
o Epididymis
§ Cysts
§ Papillary cystadenomas
· Cystic lesion with vascular mural nodule(s)
· May be bilateral
· Key things to remember with VHL
o Hemangioblastomas
o Cysts of many organs (liver, kidney, pancreas, epididymis)
o Tumors tend to be cystic with vascular mural nodules
o Tumors tend to be multiple and bilateral
o Tumors tend to be CNS and abdominal
o Retinal angioma = VHL
o Multiple hemangioblastomas = VHL
o Endolymphatic sac tumor = VHL
o Multiple renal cell carcinomas = VHL
o Bilateral pheochromocytomas = VHL
· You often screen patients with known VHL or family history starting as a teenager
§ Most VHL lesions are treatable, so screening makes sense
§ However, prognosis is poor and many VHL patients do not survive past 50s
§ NIH has recommended MRI screening of head and abdomen for individuals in VHL families after 10 years of age every 2 years
· Tip: On board exams any time they show you bilateral tumors, or a single organ with multiple non-metastatic tumors, they are probably showing you a disease process with a genetic abnormality
· VHL mnemonic is HIPPEL
o H: hemangioblastoma
o I: increased risk of renal cell cancers (kind of stupid that I=RCC)
o P: pheochromocytoma
o P: pancreatic lesions
o E: eye (retinal) hemangioblastoma
o L: liver cysts
