Von Hippel-Lindau syndrome: a case report

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Abstract

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.

About the authors

L. Yu. Khamnueva

Irkutsk State Medical University

Email: gryaznova_81@inbox.ru
ORCID iD: 0000-0001-6296-898X
SPIN-code: 4933-3080

Department of Endocrinology and Clinical Pharmacology

Russian Federation, Irkutsk

V. A. Sinitsyn

Irkutsk Order of the Badge of Honor Regional Clinical Hospital

Email: gryaznova_81@inbox.ru
Russian Federation, Irkutsk

Maria A. Gryaznova

Irkutsk State Medical University

Author for correspondence.
Email: gryaznova_81@inbox.ru
ORCID iD: 0009-0007-6631-6138
SPIN-code: 9760-9435

Cand. Sci. (Med.), Associate Professor, Department of Endocrinology and Clinical Pharmacology

Russian Federation, Irkutsk

L. S. Andreeva

Irkutsk State Medical University

Email: gryaznova_81@inbox.ru
ORCID iD: 0000-0003-4687-0004
SPIN-code: 2221-7452

Department of Endocrinology and Clinical Pharmacology

Russian Federation, Irkutsk

E. V. Chugunova

Irkutsk State Medical University

Email: gryaznova_81@inbox.ru
ORCID iD: 0000-0002-2546-6320
SPIN-code: 9598-2823

Department of Endocrinology and Clinical Pharmacology

Russian Federation, Irkutsk

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