von Hippel-Lindau disease
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von Hippel-Lindau disease
Pathology
Central and peripheral nervous system disorders
Amyotrophic lateral sclerosis
Neurofibromatosis
Sturge-Weber syndrome
Tuberous sclerosis
von Hippel-Lindau disease
Central nervous system disorders
Brain herniation
Broca aphasia
Kluver-Bucy syndrome
Wernicke aphasia
Wernicke-Korsakoff syndrome
Acoustic neuroma (schwannoma)
Adult brain tumors
Pediatric brain tumors
Pituitary adenoma
Ischemic stroke
Transient ischemic attack
Brain abscess
Cavernous sinus thrombosis
Creutzfeldt-Jakob disease
Encephalitis
Epidural abscess
Meningitis
Neonatal meningitis
Aqueductal stenosis
Cerebral palsy
Chiari malformation
Dandy-Walker malformation
Septo-optic dysplasia
Spina bifida
Spinocerebellar ataxia (NORD)
Syringomyelia
Tethered spinal cord syndrome
Alzheimer disease
Creutzfeldt-Jakob disease
Delirium
Frontotemporal dementia
Lewy body dementia
Normal pressure hydrocephalus
Vascular dementia
Acute disseminated encephalomyelitis
Central pontine myelinolysis
JC virus (Progressive multifocal leukoencephalopathy)
Multiple sclerosis
Transverse myelitis
Cavernous sinus thrombosis
Cluster headache
Idiopathic intracranial hypertension
Migraine
Tension headache
Trigeminal neuralgia
Arteriovenous malformation
Epidural hematoma
Intracerebral hemorrhage
Saccular aneurysm
Subarachnoid hemorrhage
Subdural hematoma
Essential tremor
Huntington disease
Opsoclonus myoclonus syndrome (NORD)
Parkinson disease
Restless legs syndrome
Torticollis
Early infantile epileptic encephalopathy (NORD)
Epilepsy
Febrile seizure
Brown-Sequard Syndrome
Cauda equina syndrome
Friedreich ataxia
Neurogenic bladder
Syringomyelia
Treponema pallidum (Syphilis)
Vitamin B12 deficiency
Concussion and traumatic brain injury
Peripheral nervous system disorders
Poliovirus
Spinal muscular atrophy
Charcot-Marie-Tooth disease
Guillain-Barre syndrome
Bell palsy
Trigeminal neuralgia
Carpal tunnel syndrome
Erb-Duchenne palsy
Klumpke paralysis
Sciatica
Thoracic outlet syndrome
Ulnar claw
Winged scapula
Lambert-Eaton myasthenic syndrome
Myasthenia gravis
Nervous system pathology review
Adult brain tumors: Pathology review
Central nervous system infections: Pathology review
Cerebral vascular disease: Pathology review
Congenital neurological disorders: Pathology review
Dementia: Pathology review
Demyelinating disorders: Pathology review
Headaches: Pathology review
Movement disorders: Pathology review
Neurocutaneous disorders: Pathology review
Neuromuscular junction disorders: Pathology review
Pediatric brain tumors: Pathology review
Seizures: Pathology review
Spinal cord disorders: Pathology review
Traumatic brain injury: Pathology review
Assessments
von Hippel-Lindau disease
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USMLE® Step 1 questions
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High Yield Notes
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Flashcards
von Hippel-Lindau disease
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Questions
USMLE® Step 1 style questions USMLE
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Reproduced from: Wikimedia Commons
Histopathological analysis of this patient's lesion would most likely show which of the following?
External References
First Aid
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Angiomatosis
von Hippel-Lindau disease p. 543, 719
Autosomal dominant disease
Von Hippel-Lindau disease p. 543
Hemangioblastomas p. 543
von Hippel-Lindau disease p. 543, 719
Pheochromocytomas p. 345
von Hippel-Lindau disease p. 543
Renal cell carcinomas p. 623
von Hippel-Lindau disease p. 543, 719
Retina
von Hippel-Lindau disease p. 543
Von Hippel-Lindau disease p. 543
chromosome association p. 62
presentation p. 719
renal cell carcinoma and p. 623
tumor suppressor genes and p. 222
Transcript
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Von-Hippel Lindau or VHL is a genetic disease that affects people of all ethnicities and is characterized by tumor development in the CNS, kidneys, adrenal glands and pancreas.
Okay, the VHL gene is a tumor suppressor gene on the short arm of chromosome 3.
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 central nervous system, these can occur in the retina, brain, and spinal cord.
In the eyes, it can cause blindness by detaching the retina.
In the brain and spinal cord, a tumor or the accompanying cyst causes problems when it pushes against surrounding tissue.
For example, if the tumor is in the cerebellum, it can cause ataxia, or the loss of balance.
If it blocks the flow of cerebrospinal fluid, intracranial pressure can rise causing headaches, nausea, and vomiting.
Less common are benign cysts and cyst-like tumors called cystadenomas.
The most concerning, occurring in ~25% of VHL patients, is the endolymphatic sac tumor of the inner ear which can cause deafness.
Summary
Von-Hippel Lindau (VHL) is a genetic disease that increases the risk of tumor formation in the CNS, kidneys, adrenal glands, and pancreas. It is caused by a mutated tumor suppressor gene, VHL, which increases the risk of tumor formation by upregulating genes that promote cell growth. VHL is inherited in an autosomal dominant pattern and can lead to various benign and malignant tumors. Hemangioblastoma is the most common tumor type, occurring in about 60% of VHL patients, followed by clear cell renal cell carcinoma, pancreatic neuroendocrine tumors, and pheochromocytomas. Regular surveillance is crucial for improving quality of life and lifespan. Treatment recommendations depend on the tumor type and aim to preserve the function of the affected organ.
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