Von Hippel-Lindau (VHL) SyndromeSymptoms, Doctors, Treatments, Advances & More
Learn About Von Hippel-Lindau (VHL) Syndrome
Von Hippel-Lindau syndrome is an inherited disorder characterized by the formation of tumors and fluid-filled sacs (cysts) in many different parts of the body. Tumors may be either noncancerous or cancerous and most frequently appear during young adulthood; however, the signs and symptoms of von Hippel-Lindau syndrome can occur throughout life.
Mutations in the VHL gene cause von Hippel-Lindau syndrome. The VHL gene is a tumor suppressor gene, which means it keeps cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in this gene prevent production of the VHL protein or lead to the production of an abnormal version of the protein. An altered or missing VHL protein cannot effectively regulate cell survival and division. As a result, cells grow and divide uncontrollably to form the tumors and cysts that are characteristic of von Hippel-Lindau syndrome.
The incidence of von Hippel-Lindau syndrome is estimated to be 1 in 36,000 individuals.
Mutations in the VHL gene are inherited in an autosomal dominant pattern, which means that one copy of the altered gene in each cell is sufficient to increase the risk of developing tumors and cysts. Most people with von Hippel-Lindau syndrome inherit an altered copy of the gene from an affected parent. In about 20 percent of cases, however, the altered gene is the result of a new mutation that occurred during the formation of reproductive cells (eggs or sperm) or very early in development.
Rogel Cancer Center
Dr. Else’s primary appointment is with the Division of Metabolism, Endocrinology and Diabetes. He received his MD degree from the University of Hamburg, Germany. He pursued his clinical training at the University of Hamburg (Residency: Internal Medicine) and the University of Michigan (Residency: Internal Medicine, Fellowship: Endocrinology). His main research interests are the genetics of endocrine tumors. Dr. Else’s clinical practice focuses on the care for patients with benign and malignant endocrine tumors, particularly pheochromocytoma, adrenocortical tumors and neuroendocrine tumors as well as accompanying hormone excess syndromes (e.g Cushing syndrome, primary aldosteronism). Dr. Else has a particular interest in taking care of patients with hereditary syndromes that predispose to the development of endocrine tumors (e.g. Multiple Endocrine Neoplasia (MEN) type 1, MEN2A & MEN2B, Hereditary Paraganglioma Syndrome). He attends the Multidisciplinary Endocrine Oncology Clinic, where patients with tumors receive diagnostic procedures and treatment. In addition he is part of the Cancer Genetics Clinic, which evaluates patients for hereditary syndromes and also facilitates regular exams and surveillance for patients at risk for endocrine tumors. Dr. Else is rated as an Elite provider by MediFind in the treatment of Von Hippel-Lindau (VHL) Syndrome. He is also highly rated in 105 other conditions, according to our data. His clinical expertise encompasses Adrenal Cancer, Adrenocortical Carcinoma, Adrenal Gland Adenoma, Neuroendocrine Tumor, and Thyroidectomy. Dr. Else is board certified in Internal Medicine and Endocrinology, Diabetes & Metabolism.
Mark Ball is a Plastic Surgeon and a Urologist practicing medicine in Bethesda, Maryland. Dr. Ball is rated as an Elite provider by MediFind in the treatment of Von Hippel-Lindau (VHL) Syndrome. He is also highly rated in 6 other conditions, according to our data. His clinical expertise encompasses Von Hippel-Lindau (VHL) Syndrome, Renal Cell Carcinoma (RCC), Renal Oncocytoma, Nephrectomy, and Prostatectomy. Dr. Ball is board certified in American Board Of Urology.
Stanford Health Care
Steven Chang is a Neurosurgery specialist and a General Surgeon practicing medicine in Palo Alto, California. Dr. Chang is rated as an Elite provider by MediFind in the treatment of Von Hippel-Lindau (VHL) Syndrome. He is also highly rated in 90 other conditions, according to our data. His clinical expertise encompasses Meningioma, Arteriovenous Malformation, Trigeminal Neuralgia, Awake Craniotomy, and Gamma Knife Radiosurgery.
Summary: This is a study to evaluate the efficacy and safety of belzutifan monotherapy in participants with advanced pheochromocytoma/paraganglioma (PPGL), pancreatic neuroendocrine tumor (pNET), von Hippel-Lindau (VHL) disease-associated tumors, advanced wt (wild-type) gastrointestinal stromal tumor (wt GIST), or advanced solid tumors with hypoxia inducible factor-2 alpha (HIF-2α) related genetic alterati...
Summary: Researchers are looking for new ways to treat advanced solid tumors and von Hippel-Lindau (VHL)-related tumors: * Advanced means the cancer has spread to other parts of the body (metastatic) or cannot be removed with surgery * Solid tumors are cancers mostly in body organs and tissues, not in the blood or other body liquids * VHL-related tumors are tumors caused by VHL disease. VHL disease is pass...
Published Date: October 01, 2018
Published By: National Institutes of Health