Abstract

ROMAN GONZALEZ, ALEJANDRO; PADILLA ZAMBRANO, HUBER SAID  and  BUILES BARRERA, CARLOS. Endocrinological manifestations of Von Hippel-Lindau disease: narrative re. Salud, Barranquilla [online]. 2022, vol.38, n.3, pp.875-890.  Epub May 29, 2023. ISSN 0120-5552.  https://doi.org/10.14482/sun.38.3.616.99.

Von Hippel-Lindau disease is an autosomal dominant neoplastic syndrome characterized by a germline mutation of the VHL gene encoding the VHL protein on chromosome 3. This mutation predisposes to the development of benign and malignant tumors that affect different organs, due to an absence of inhibition of the hypoxia-inducible factor-mediated tumorigenesis pathway. The prevalence of this disease is 2 to 3 per 100,000 people, and neoplasms are most frequently located in the retina, central nervous system, head and neck, pancreas, kidney, adrenal gland, and the organ. It is classified into 2 types depending on the presence or absence of pheochromocytoma. Pheochromocytoma and pancreatic neoplasms are the most frequent endocrine manifestations. Pheochromocytoma occurs in 1030% of cases. It can range from an asymptomatic entity to a variable symptomatology that includes the classic triad of headache, palpitations and diaphoresis. The diagnosis is made through biochemical tests that confirm high levels of catecholamines and imaging studies. Pancreatic lesions are frequently asymptomatic and are detected incidentally in imaging studies performed in VHL patients. Although the clinical and biochemical characteristics of these malignancies are not pathognomonic, they may be useful in suggesting VHL disease as the underlying etiology.

Keywords : neuroendocrine tumor; pheochromocytoma; Von Hippel-Lindau Disease.

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