Von Hippel-Lindau syndrome: a case report

Khamnueva L.Yu., Sinitsyn V.A., Gryaznova M.A., Andreeva L.S., Chugunova E.V.

1) Irkutsk State Medical University, Department of Endocrinology and Clinical Pharmacology, Irkutsk, Russia; 2) Irkutsk Order of the Badge of Honor Regional Clinical Hospital, Irkutsk, Russia

Background: Currently, diagnosing von Hippel-Lindau syndrome (VHL) is challenging due to its rarity, the diversity of clinical manifestations, and the lack of uniform diagnostic criteria. VHL is characterized by the development of various multiple neoplasms, including pheochromocytoma (PHEO), paraganglioma (PGL), and renal and pancreatic tumors. 
Description of the clinical case: This article examines the clinical case of a patient with the onset of treatment-resistant arterial hypertension (AH) in adolescence.
The diagnosis of VHL was suspected based on the diagnosis of PGL and PHEO in both adrenal glands. The patient developed multiple neoplasms, including PGL and renal cell carcinomas, requiring surgical intervention. The patient’s VHL gene mutation is familial, and the genetic basis of the disease has also been confirmed in his sister.
Conclusion: This clinical case demonstrates the importance of diagnosing VHL as early as possible in young patients and their relatives, as well as the need for regular screening for the timely detection and treatment of developing neoplasms. Primary care physicians must be educated about the clinical manifestations, diagnosis, and monitoring algorithm for patients with VHL. 

For citations: Khamnueva L.Yu., Sinitsyn V.A., Gryaznova M.A., Andreeva L.S., Chugunova E.V. Von Hippel-Lindau syndrome: a case report. Pharmateca. 2025;32(8):119-127. (In Russ.). DOI: https://dx.doi.org/10.18565/pharmateca.2025.8.119-127

Authors’ contribution: The authors declared that they made an equal and substantial contribution to the concept or design of the study; acquisition, analysis, and interpretation of the data; writing the article; and/or substantially revising its scientific and intellectual content. All authors read and approved the final version of the article before publication, agree to be accountable for all aspects of the work, and warrant that they have appropriately reviewed and resolved issues related to the accuracy and integrity of all parts of the work.
Concept and design of the work – L.Yu. Khamnueva, L.S. Andreeva. Medical record processing – V.A. Sinitsyn, M.A. Gryaznova. Writing – M.A. Gryaznova, L.Yu. Khamnueva. Editing – L.Yu. Khamnueva, E.V. Chugunova.
Conflicts of interest: The authors confirm that they have no conflicts of interest to declare.
Funding: This work was conducted without additional funding from third parties.
Patient Consent for Publication: The patient voluntarily signed an informed consent form for the publication of personal medical information in anonymized form.

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About the Authors

L.Yu. Khamnueva, Irkutsk State Medical University, Department of Endocrinology and Clinical Pharmacology, Irkutsk, Russia; ORCID: https://orcid.org/0000-0001-6296-898X, eLibrary SPIN: 4933-3080
V.A. Sinitsyn, Irkutsk Order of the Badge of Honor Regional Clinical Hospital, Irkutsk, Russia
Maria A. Gryaznova, Cand. Sci. (Med.), Associate Professor, Department of Endocrinology and Clinical Pharmacology, Irkutsk State Medical University, Irkutsk, Russia; gryaznova_81@inbox.ru, ORCID: https://orcid.org/0009-0007-6631-6138, eLibrary SPIN: 9760-9435 (corresponding author)
L.S. Andreeva, Irkutsk State Medical University, Department of Endocrinology and Clinical Pharmacology, Irkutsk, Russia; ORCID: https://orcid.org/0000-0003-4687-0004, eLibrary SPIN: 2221-7452
E.V. Chugunova, Irkutsk State Medical University, Department of Endocrinology and Clinical Pharmacology, Irkutsk, Russia; ORCID: https://orcid.org/0000-0002-2546-6320, eLibrary SPIN: 9598-2823

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