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Introduction: von Hippel-Lindau disease (or syndrome) is a rare genetic disorder due to a mutation in the eponymous tumor suppressor gene located on the short arm of chromosome 3 (3p25-26). The autosomal dominant type of inheritance determines a 50% risk for the offspring of germline mutation carriers. The clinical presentation may include various neoplasms, the most common of which are: pheochromocytoma, hemangioblastoma, renal carcinoma, neuroendocrine pancreatic tumors, etc. Genetic counselling and timely diagnosis enable early and quality care for patients with this neoplastic syndrome. The aim of this publication is to present a family with von Hippel-Lindau syndrome and an overview of the problem with a focus on the challenges associated with clinical diagnosis (criteria, clinical and hormonal characteristics), genetic testing and counselling. Materials and methods: We present three successive generations of an affected family, the gradual manifestation of different combinations of the classical clinical features of this inherited disease and some genetic features. The data were obtained by examining the available medical records of the family, long-term observation and follow-ups. Results: The initial diagnosis in accordance with clinical criteria was confirmed in 2007 by genetic analysis of the three generations (grandmother, mother and grandson), and a mutation in exon 3 of the VHL gene, c. 500G>A (p.Arg167Gln), was found in the grandmother and mother. Conclusion: The pronounced genotype-phenotype correlations and modern imaging methods, together with genetic counselling and timely testing, allow for early diagnosis and timely treatment of tumors associated with the expected phenotype in relatives with VHL syndrome. [ABSTRACT FROM AUTHOR]