Von Hippel Lindau Clinical Care Center in Buenos Aires Argentina

DE MIGUEL V; GUEGLIO G; ,BACCANELLI M; GENTILE C; ,ROSA DIEZ G; ,BARONTINI M; P,BARRAGÁN F; JURADO A; PÉREZ RAFFO G; ONNA N; DRA SANSO G; GARCÍA MARCHIÑENA; GUEGLIO G; VIDELA G; CAYO F; CUFFARO P; SERRA M

Boston

Congreso; 12 th International VHL Medical Symposium; 2016

Background:VHL disease is a rare autosomal dominant disorder characterized by the development of cysts, benign and malignant tumors in different organs that may lead to multi-organic affectation and health impairment. Multidisciplinary approach in specialized units with trained staff is mandatory. The Hospital Italiano de Buenos Aires (HIBA) was designated as VHL CCC in December 2014.Objectives: Introduce the creation of the VHL Unit, its organization, aims and working procedures, and share our experience.Methods: HIBA is a first level reference and university hospital equipped with the highest technological and scientific resources to provide complete medical care and research for VHL disease. The main goal of the VHL unit is to offer specialized, comprehensive and coordinated assistance, accurate diagnosis and genetic counseling. A clinician coordinates the appointments with the different specialties. Patients are followed by structured online health record based on an electronic health chart. The unit works in partnership with the Hospital de Niños Ricardo Gutierrez, a children`s referral hospital with an extensive experience in VHL disease. Patients are referred there for genetic testing. Regular meetings among professionals involved are performed on a monthly basis. Our website provides updated information for patients and professionals. Results: Fifteen patients were followed, ranging from 25 to 62 years old. Twelve female (80%). The most frequent tumors found were: central nervous system hemangioblastomas (73.3%), pancreatic cysts (60%), retinal angiomas (53.3%), renal cell carcinoma (40%) and pheochromocytoma (20%). Four patients (26.6%) had significant complications: unilateral amaurosis (3), bilateral hearing loss with cochlear implant (1), adrenal insufficiency (1) and end stage renal disease (2). Twenty percent of the patients presented adjustment disorders with depressed mood. Genetic testing was performed in 10 patient (8 confirmed VHL).Conclusions:The VHL Unit provides a multidisciplinary approach for patients and their families, offering adequate and integral assistance and promoting knowledge and scientific advances in the area. Future plans include informative meetings for patients and research projects to better understand the nature of the disease.