What are the symptoms of von Hippel-Lindau disease?
What are the symptoms of Von Hippel-Lindau disease?
- Headaches.
- Hearing loss or ringing in the ears (tinnitus).
- High blood pressure.
- Loss of balance.
- Loss of muscle strength or coordination.
- Vomiting.
- Vision problems.
How do you remember Von Hippel-Lindau syndrome?
Mnemonic:
- H: hemangioblastoma of CNS.
- I: increased risk of renal cell cancer.
- P: pheochromocytoma.
- P: pancreatic lesions (cyst, cystadenoma, cystadenocarcinoma, neuro-endocrine tumors)
- E: eye and ear dysfunction (retinal hemangioblastoma, endolymphatic sac tumors)
- L: liver and renal cysts.
When is VHL diagnosed?
The mean age of onset of 26 years and 97% of people with a VHL gene mutation have symptoms by the age of 65. VHL disease affects males and females and all ethnic groups equally, and occurs in all parts of the world.
What parts of the body does VHL affect?
VHL disease is an inherited disorder that causes tumors and cysts to grow in certain areas of the body, including the central nervous system (including the brainstem, cerebellum, and spinal cord), retina, endolymphatic sac in the ear, adrenal glands, pancreas, kidneys, epididymis (in males), and broad ligament (in …
What is retinal capillary hemangioma?
Retinal capillary hemangioma is a rare, benign vascular tumor of the retina. Two variants of the tumor are recognized: peripheral retinal capillary hemangioma and the less frequent capillary hemangioma of the optic nerve head and/or juxtapapillary retina.
How do you test for von Hippel-Lindau syndrome?
The only way to diagnose VHL is with genetic testing. Nearly all people with VHL will be found to have a genetic mutation in their VHL gene once tested. There are no universal guidelines regarding who should be screened for VHL.
What is Phaces syndrome?
PHACE syndrome (posterior fossa anomalies, hemangioma, arterial anomalies, cardiac anomalies, and eye anomalies) is an uncommon disorder of unknown etiology characterized by large segmental hemangiomas of the face and various developmental defects.
Are hemangioblastomas malignant?
A hemangioblastoma is a benign vascular tumor located along the spine. Although these tumors are benign, they can cause significant neurological problems, depending on their location. Hemangioblastomas are rare, accounting for only three percent of all spinal tumors.
What is retinal angiomatosis?
Retinal angiomatosis (von Hippel’s disease) is a congenital and familial (autosomal domi- nant) hamartoma of the retinal capillaries. The characteristic retinal lesion is a round, reddish-orange tumor of variable size that is as- sociated with dilated and tortuous afferent and efferent vessels (Figs lA, B).
Where is VHL located?
The VHL gene is a tumor suppressor gene located on chromosome 3, which usually controls cell growth and cell death.
What is metastatic ccRCC?
Metastatic clear cell renal cell carcinoma (ccRCC) is the most common subtype of kidney cancer. Localized ccRCC has a favorable surgical outcome. However, one third of ccRCC patients will develop metastases to the lung, which is related to a very poor outcome for patients.
What causes ccRCC?
ccRCC can run in families. Almost all cases of ccRCC that run in families are found in people with a genetic condition called Von Hippel-Lindau syndrome, but other hereditary conditions may also be associated with ccRCC. People with Von Hippel-Lindau syndrome have mutations in the VHL gene.