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VON HIPPEL-LINDAU DISEASE: Update on Pathogenesis and Systemic Aspects
Mary E Aronow1, Henry E Wiley2, Alain Gaudric3
1Retina Service, Massachusetts Eye and Ear, Harvard Medical School, Boston, Massachusetts.
Retina (Philadelphia, Pa.)
|May 17, 2019
Summary
Von Hippel-Lindau (VHL) disease, a familial cancer syndrome, stems from VHL gene mutations impacting cellular processes and leading to tumors. Early diagnosis through ophthalmologic screening is crucial for managing this multisystem disorder.
Area of Science:
- Genetics
- Oncology
- Ophthalmology
Background:
- Von Hippel-Lindau (VHL) disease is a rare, inherited cancer predisposition syndrome.
- It is characterized by the development of various benign and malignant tumors and cysts in multiple organs.
- Germline mutations in the VHL tumor suppressor gene are the underlying cause.
Purpose of the Study:
- To review the biological pathways involved in VHL disease pathogenesis.
- To summarize the systemic manifestations of VHL disease.
- To outline current screening recommendations for VHL disease.
Main Methods:
- A comprehensive literature search was conducted using PubMed.
- Keywords included 'von Hippel-Lindau', 'von Hippel-Lindau disease', and 'VHL'.
- The review focused on current and pertinent publications regarding VHL disease pathogenesis and systemic aspects.
Main Results:
- VHL disease results from mutations in the VHL tumor suppressor gene (VHL) on chromosome 3p.
- VHL gene mutations disrupt cellular processes, including response to hypoxia, leading to tumor formation.
- Manifestations include vascular tumors (retina, brain, spine) and visceral tumors/cysts.
Conclusions:
- Ophthalmologists are vital for VHL disease diagnosis, as retinal hemangioblastomas are often the initial sign.
- Screening guidelines aid in the early detection of vision- and life-threatening conditions associated with VHL disease.
- Regular screening ensures timely management for affected individuals and those at risk.
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