Abordaje integral de pacientes costarricenses afectados con la enfermedad de Huntington y sus familiares

aim: to perform the molecular diagnosis to affected persons and their relatives at 50% risk of huntington’s disease and to give genetic counselling, psychological and clinical follow-up. this will improve the clinical management of the patients that could be translated into a better quality of life for them and their families. methods: molecular diagnosis for patients with clinical diagnosis of huntington, their asymptomatic relatives at 50% risk and patients with an unclear diagnosis. the patients received genetic counselling and psychological evaluation. positive patients for the mutation, both symptomatic and asymptomatic, who did not have a regular medical control, were referred to the neurologist for an adequate clinical management. results: so far, 64 individuals have been studied (35 women and 29 men) belonging to 11 unrelated and different families. clinical diagnosis of huntington was confirmed in six of these patients; another six patients who had an unclear diagnosis were tested but only one of them was confirmed as having huntington. from 52 individuals at risk, 17 resulted positive for the mutation. so far, 20 women and 17 men have been evaluated at the psychological level. there are other diseases similar to huntington, therefore, molecular diagnosis is a helpful tool in order to establish the right clinical diagnosis. conclusion: according to our experience, pre-symptomatic testing fully addresses the following individual’s expectancies: uncertainty relief, knowledge of the risk of transmitting the disease to their children and health care planning in the coming years. no differences were found among individuals assessed at the psychological level with a positive or negative molecular diagnosis.