Exam Cram

• Von Hippel-Lindau (VHL) is a rare pro-cancerous genetic disorder

• It's associations include: haemangiomas of the central nervous system, renal cell carcinoma, Phaeochromocytoma , Multiple Endocrine Neoplasia (MEN) Syndromes 

• Presentation is based upon the growth's location, 70% develop Renal Cancer with the biggest impact on mortality

• Diagnosis: genetic testing

Outline 

Background

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Assessment

History

Examination

Investigations

Diagnosis

Diagnostic criteria

Differentials

Classification

Management

Acute

Long term

Resources and References

1. van Leeuwaarde RS, Ahmad S, van Nesselrooij B, et al. Von Hippel-Lindau Syndrome. 2000 May 17 [Updated 2024 Feb 29]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1463/

Written in 2025