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Von Hippel-Lindau (VHL) syndrome is a rare and complex disease. In 1996, we described a 3 generation VHL 2A kindred with 11 mutation carriers. We aim to share our experience regarding the long-term follow-up of this family and the management of all our other VHL patients focusing on frequently encountered neuroendocrine neoplasms: pheochromocytoma/paraganglioma and pancreatic neuroendocrine neoplasms (PNEN). All VHL patients in follow-up at our tertiary center from 1980 to 2019 were identified. Clinical, laboratory, imaging, and therapeutic characteristics were retrospectively analyzed. We identified 32 VHL patients in 16 different families, 7/16 were classified as VHL 2 subtype. In the previously described family, the 4 initially asymptomatic carriers developed a neuroendocrine tumor; 7 new children were born, 3 of them being mutation carriers; 2 patients died, 1 due to metastatic PNEN-related liver failure. Pheochromocytoma was frequent (22/32), bilateral (13/22;59%), often diagnosed in early childhood when active screening was timely performed, associated with paraganglioma in 5/22, rarely malignant (1/22), and recurred after surgery in some cases after more than 20 years. PNEN occurred in 8/32 patients (25%), and was metastatic in 3 patients. Surgery and palliative therapy allowed relatively satisfactory outcomes. Severe disabling morbidities due to central-nervous system and ophthalmologic hemangiomas, and other rare tumors as chondrosarcoma in 2 patients and polycythemia in 1 patient were observed. A multidisciplinary approach and long-term follow-up is mandatory in VHL patients to manage the multiple debilitating morbidities and delay mortality in these complex patients. © 2020 American Association of Clinical Endocrinologists. Published by Elsevier, Inc. All rights reserved.


Auryan Szalat, Kira Oleinikov, Avital Nahmias, Vardiella Meiner, Simona Ben-Haim, Karine Atlan, Naama Lev-Cohain, Liat Appelbaum, Moshe Gomori, Haggi Mazeh, Abed Khalaileh, Jacob Pe'er, Alexander Lossos, Yigal Shoshan, Simona Grozinsky-Glasberg, David J Gross. VHL-Related Neuroendocrine Neoplasms And Beyond: An Israeli Specialized Center Real-Life Report. Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists. 2020 Oct;26(10):1131-1142

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PMID: 33471715

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