Enfermedad de Von Hippel Lindau: Estudio de Caso

Von Hippel Lindau disease is an autosomal dominant tumor syndrome that manifests in early adulthood and predisposes those affected to the development of multiple type of benign and malignant tumors, having greater affinity for the nervous system, although they can manifest in multiple sites including kidney, pancreas, parathyroid, among other sites. It is part of the group of rare hereditary familial diseases, and in Ecuador there is little research on it, and therefore it is underdiagnosed. The molecular basis for the appearance of this disease is the loss of function of the VHL protein and the subsequent accumulation of the induced hypoxia factor, generating a cascade of metabolic and cellular differentiation failures. Research is ongoing to further elucidate its pathophysiology, its genesis and how to achieve an effective treatment. Early diagnosis and consequently its rapid management allow to improve the patient's quality of life, as well as to maintain his functional capacity. Diagnosis is based on clinical analysis of the patient with classic tumors of the disease, family history and in developed countries it includes diagnosis by genetic analysis. Advances in symptomatic treatment as well as surgical resolution of the disease are still in progress in other countries in the United States and Europe, which are the basis for the management of the few patients diagnosed in Ecuador. The case study presents a 47-year-old patient with VHL disease diagnosed 24 years ago, which has expressed itself with multiple hemangioblastomas and cysts at the level of the central nervous system. In addition to the picture, multiple pancreatic cysts and in both kidneys, endolymphatic sac tumor. The patient has undergone surgery 7 times, has received radiotherapy sessions, treatment for all comorbidities, both organic and secondary psychological, which entails a large dosage of permanent daily medication. The patient has achieved annual imaging controls in pursuit of timely diagnosis of new angiogenesis as well as new secondary comorbidities. Surprisingly, the patient has not expressed tumors at ocular level, more frequent in patients with VHL, so she remains expectant of symptomatic treatment of this degenerative disease and its new problems. The VHL disease in addition to generating a biological impact evidenced with various clinical manifestations depending on the tumor, also generates an emotional impact for both the patient and his environment, for this reason it is important to consider the psychological and psychiatric management within the comprehensive multidisciplinary management of patients. The economic factor is an important variable when talking about this disease, needing in many occasions the use of private system for the adequate management because the public system in our country is limited both in resources and knowledge.