Von Hippel-Lindau disease
Alternate names[edit | edit source]
VHL syndrome; VHL; Von Hippel-Lindau disease; Von Hippel-Lindau syndrome
Definition[edit | edit source]
Von Hippel-Lindau (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.
Cause[edit | edit source]
- Von Hippel-Lindau (VHL) disease is caused by a mutation in the VHL gene.
- This gene is a tumor suppressor gene, which helps to control cell growth.
- Mutations in the VHL gene lead to a lack of regulation of cell growth and survival, allowing cells to grow and divide uncontrollably.
- This contributes to the formation of the tumors associated with VHL disease.
Inheritance[edit | edit source]
- Mutations in the gene that causes VHL disease (the VHL gene) are inherited in an autosomal dominant manner. This means that having a mutation in only one copy of the VHL gene in each cell is enough to increase a person's risk of developing VHL disease.
- In most autosomal dominant conditions, having one mutated copy of the responsible gene is sufficient to cause the condition.
- However, in VHL disease, a mutation in the other copy of the gene must occur during a person's lifetime to trigger the development of VHL disease.
- For example, a person may inherit a mutated copy of the gene from a parent, but acquiring a second mutation in the other gene copy in a specific organ may trigger tumor development in that organ. Almost everyone who is born with one VHL mutation will eventually acquire a mutation in the second copy of the gene and develop VHL disease.
- In most cases, an affected person inherits the first mutated gene from an affected parent.
- However, in about 20% of cases, the mutation occurs for the first time in a person with no family history of the condition.
- This is called a de novo mutation.
- When a person with a mutation that can lead to VHL disease has children, each of their children has a 50% (1 in 2) chance to inherit that mutation.
Onset[edit | edit source]
Tumors usually first appear in young adulthood.
Signs and symptoms[edit | edit source]
- Symptoms of von Hippel-Lindau (VHL) disease vary among patients and depend on the size and location of tumors.
- Hemangioblastomas that develop in the brain and spinal cord can cause headaches, vomiting, weakness, and a loss of muscle coordination (ataxia).
- Hemangioblastomas can also occur in the light-sensitive tissue that lines the back of the eye (the retina).
- These tumors, which are also called retinal angiomas, may cause vision loss.
- Pheochromocytomas affect the adrenal glands, which are small hormone-producing glands located on top of each kidney.
- These tumors often cause no symptoms, but in some cases they can produce an excess of hormones that cause dangerously high blood pressure.
- About 10 percent of people with VHL disease develop endolymphatic sac tumors, which are non-cancerous tumors in the inner ear.
- These growths can cause hearing loss in one or both ears, as well as ringing in the ears (tinnitus) and problems with balance.
- Individuals with VHL disease are also at a higher risk than normal for certain types of cancer, especially kidney cancer.
- Renal cell carcinoma occurs in about 70% of individuals with VHL disease by age 60 and is the leading cause of death.
Clinical presentation[edit | edit source]
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.
30%-79% of people have these symptoms
- Adrenal pheochromocytoma
- Cerebellar hemangioblastoma
- Elevated urinary catecholamines
- Hypertension
- Renal cell carcinoma(Cancer starting in small tubes in kidneys)
- Retinal capillary hemangioma
5%-29% of people have these symptoms
- Abdominal pain(Pain in stomach)
- Abnormal left ventricular function
- Anxiety(Excessive, persistent worry and fear)
- Back pain
- Cardiomyopathy(Disease of the heart muscle)
- Distal lower limb muscle weakness
- Elevated circulating catecholamine level
- Endolymphatic sac tumor
- Headache(Headaches)
- Hyperhidrosis(Excessive sweating)
- Hypertensive retinopathy
- Limb pain
- Macular edema
- Multiple renal cysts(Multiple kidney cysts)
- Pallor
- Palpitations(Missed heart beat)
- Pancreatic cysts
- Pancreatic islet cell adenoma
- Papillary cystadenoma of the epididymis
- Papilledema
- Stroke
- Upper limb muscle weakness(Decreased arm strength)
- Vertigo(Dizzy spell)
- Visual loss(Loss of vision)
1%-4% of people have these symptoms
- Epididymal cyst
- Increased intracranial pressure(Rise in pressure inside skull)
- Myocardial infarction(Heart attack)
- Myocarditis(Inflammation of heart muscle)
- Paraganglioma
- Polycythemia(Increased red blood cells)
- Retinal detachment(Detached retina)
Diagnosis[edit | edit source]
The diagnosis of von Hippel-Lindau disease can be made based on specific clinical criteria (signs and symptoms), or when molecular genetic testing reveals a change (mutation) in the VHL gene. Tests that may be used to establish a clinical diagnosis include:
- MRI of the brain and spinal cord
- fundoscopy
- ultrasound examination or MRI of the abdomen
- blood and urinary catecholamine metabolites.
Treatment[edit | edit source]
- Treatment for Von Hippel-Lindau (VHL) disease depends on the location and size of tumors.
- In general, the goal is to treat growths when they cause symptoms, but are still small so they don't cause permanent damage.
- Treatment usually involves surgical removal of tumors.
- Radiation therapy may be used in some cases.
- All people with VHL disease should be carefully followed by a physician or medical team familiar with the disorder.
- Intervention for most CNS lesions (remove brain and spinal lesions completely when large and/or symptomatic)
- Treat retinal (but not optic nerve) angiomas prospectively
- Early surgery (nephron-sparing or partial nephrectomy when possible) for renal cell carcinoma
- Renal transplantation following bilateral nephrectomy
- Remove pheochromocytomas (partial adrenalectomy when possible)
- Monitor pancreatic cysts and neuroendocrine tumors and consider removal of neuroendocrine tumors
- Consider surgical removal of endolymphatic sac tumors (particularly small tumors in order to preserve hearing and vestibular function)
- Cystadenomas of the epididymis or broad ligament need treatment when symptomatic or threatening fertility.[1][1].
References[edit | edit source]
- ↑ van Leeuwaarde RS, Ahmad S, Links TP, et al. Von Hippel-Lindau Syndrome. 2000 May 17 [Updated 2018 Sep 6]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1463/
NIH genetic and rare disease info[edit source]
Von Hippel-Lindau disease is a rare disease.
Von Hippel-Lindau disease Resources | ||
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