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Von Hippel-Landau disease
Von Hippel-Landau (VHL) disease is an inherited disorder characterized by the abnormal growth of both benign and cancerous tumors and cysts in many parts of the body
Prevalence
1-9 / 100 000
Age of Onset
ICD-10
Q85.8
Inheritance
Autosomal dominant
Autosomal recessive
Mitochondrial/Multigenic
X-linked dominant
X-linked recessive
5 Facts you should know
FACT
VHL disease is a rare systemic syndrome that can cause recurrent tumor development in the kidneys, CNS, and pancreas
FACT
It is a multi-organ, autosomal dominant condition characterized by abnormal cell growth and caused by genetic aberrations of the tumor suppressor gene VHL
FACT
Tumors that develop are often benign but may cause symptoms, depending on location, as the tumor grows. Some tumors, however, may become cancerous, such as those found in the kidneys and pancreas
FACT
As many as 70% of people with VHL disease develop renal cell carcinoma by 60 years of age - RCC begins to appear at a median age of 31 years
FACT
Lack of functional VHL protein results in accumulation of HIF-2α
Interest over time
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Common signs & symptoms
Adrenal pheochromocytoma
Cerebellar hemangioblastoma
Elevated urinary catecholamines
Hypertension
Renal cell carcinoma
Retinal capillary hemangioma
Current treatments
Regular Monitoring and Surveillance
Patients with VHL disease typically undergo regular monitoring through imaging tests such as MRI (magnetic resonance imaging) or CT (computed tomography) scans to detect any tumor growth or changes in existing lesions
Surgery
Surgical removal of tumors or cysts is often performed to alleviate symptoms or prevent complications such as organ dysfunction or bleeding. The approach to surgery depends on the location and size of the tumors
Radiation Therapy
Radiation therapy may be used to shrink or control the growth of tumors, particularly in cases where surgical removal is not feasible or poses risks to surrounding structures
Medication
In some cases, medications may be prescribed to manage specific symptoms or complications associated with VHL disease. For example, medications may be used to control high blood pressure or hormone levels in patients with adrenal tumors
Targeted Therapy
Emerging treatments are exploring the use of targeted therapies that specifically target the genetic mutations underlying VHL disease. These therapies aim to inhibit the growth of tumors by targeting pathways involved in tumor development
Clinical Trials
Participation in clinical trials may provide access to experimental treatments or therapies that are being investigated for their efficacy in treating VHL disease