VHL disease

An inherited disorder characterized by the formation of tumors and cysts in different parts of the body

Von Hippel-Lindau disease
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Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Hemangioblastomas, renal cell carcinoma, pheochromocytoma, endolymphatic sac tumors
Complications	N/A
Onset	Usually in young adulthood
Duration	Lifelong
Types	N/A
Causes	Mutations in the VHL gene
Risks	Family history
Diagnosis	Genetic testing, imaging studies
Differential diagnosis	N/A
Prevention	N/A
Treatment	Surgical removal of tumors, monitoring
Medication	N/A
Prognosis	Variable, depends on tumor location and treatment
Frequency	1 in 36,000
Deaths	N/A

Von Hippel-Lindau disease (VHL) is a rare, genetic disorder characterized by the formation of tumors and fluid-filled sacs (cysts) in multiple organs. It is caused by mutations in the VHL gene, which is a tumor suppressor gene. The disease is named after Eugen von Hippel and Arvid Lindau, who first described the condition.

Pathophysiology

The VHL gene is located on chromosome 3p25-26 and encodes a protein that is part of a complex involved in the degradation of hypoxia-inducible factors (HIFs). Mutations in the VHL gene lead to the accumulation of HIFs, which in turn activate the transcription of genes that promote angiogenesis, cell growth, and survival. This results in the development of highly vascularized tumors.

Clinical Manifestations

Patients with VHL disease can develop a variety of tumors and cysts, including:

• Hemangioblastomas: These are benign tumors of the central nervous system, commonly found in the cerebellum, spinal cord, and retina.
• Renal cell carcinoma: Malignant tumors of the kidney, which are a major cause of morbidity and mortality in VHL patients.
• Pheochromocytoma: Tumors of the adrenal glands that can cause hypertension and other symptoms due to excess catecholamine production.
• Endolymphatic sac tumors: Rare tumors of the inner ear that can lead to hearing loss.
• Pancreatic cysts and neuroendocrine tumors: These can occur in the pancreas and may or may not cause symptoms.

Diagnosis

Diagnosis of VHL disease is based on clinical criteria and genetic testing. Imaging studies such as MRI and CT scans are used to detect tumors and cysts in affected organs. Genetic testing can confirm the presence of mutations in the VHL gene.

Management

Management of VHL disease involves regular surveillance and treatment of tumors. Surgical removal of tumors is often necessary, especially for those that are symptomatic or have malignant potential. Regular monitoring with imaging studies is crucial to detect new lesions early.

Prognosis

The prognosis for individuals with VHL disease varies depending on the location and type of tumors, as well as the effectiveness of treatment. Early detection and management of tumors can improve outcomes.

Also see

• Hereditary cancer syndromes
• Neurofibromatosis
• Tuberous sclerosis
• Li-Fraumeni syndrome