Von Hippel – Lindau syndrome: A case report reminding the necessity for pheochromocytoma detection in patients with arterial hypertension
Abstract. Von Hippel – Lindau syndrome (VHL) is a rare, autosomal dominant inherited disorder caused by a mutation in the VHL tumor suppressor gene and characterized by the development of multiple tumors in various organs and systems. Current article presents a clinical case of a 49-year-old patient with a verified pathogenic mutation of VHL gene. His initial clinical manifestations were acute arterial hypertension with the classic autonomic triad (headache, palpitations, and profuse sweating), necessitating a comprehensive diagnostic search. His examination revealed a combination of pheochromocytomas in both adrenal glands, cerebroretinal hemangiomatosis, and a neuroendocrine tumor of the pancreatic body, leading to the suspicion and subsequent molecular genetic confirmation of VHL syndrome. This observation highlights the importance of targeted screening for catecholamine-producing tumors in young and middle-aged patients with unexplained hypertension, a personalized multidisciplinary approach, and cascade genetic counseling for first-degree relatives of them.R.M. Gabibullaev, A.A. Udagova, P.S. Akhmedova, L.V. Saveleva, S.A. Ibragimova
Keywords
von Hippel – Lindau syndrome
pheochromocytoma
arterial hypertension
metanephrines
screening
angiogenesis
adrenalectomy
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About the Authors
Ramazan M. Gabibullaev, MD, clinical resident of Endocrinology Research Centre, Moscow, Russian Federation.E-mail: Ramazan.gab79@mail.ru
ORCID: https://orcid.org/0009-0007-4725-8307. eLibrary SPIN: 3002-5904
Aishat A. Udagova, MD, clinical resident of Endocrinology Research Centre, Moscow, Russian Federation.
E-mail:udagova79@gmail.com
ORCID: https://orcid.org/0009-0007-2171-7106
Pinara S. Akhmedova, MD, clinical resident of Endocrinology Research Centre, Moscow, Russian Federation.
E-mail: pinaraakh2002@mail.ru
ORCID: https://orcid.org/0009-0000-1220-0921
Larisa V. Saveleva, MD, PhD (Medicine), head of the Department of endocrinopathies therapy, Endocrinology Research Centre, Moscow, Russian Federation.
E-mail: slv63@mail.ru
ORCID: https://orcid.org/0000-0002-2808-4846. eLibrary SPIN: 1452-8793
Saida A. Ibragimova, MD, endocrinologist at Endocrinology Research Centre, Moscow, Russian Federation.
E-mail: Ibragimova.Saida@endocrincentr.ru
ORCID: https://orcid.org/0009-0005-4780-8327
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