THE ROLE OF MULTIDISCIPLINARY APPROACH IN THE PROCESS OF DIAGNOSING NEUROFIBROMATOSIS, TYPE 1, IN COMBINATION WITH CONGENITAL HEART PATHOLOGY

Abstract

Neurofibromatosis type 1 is a complex hereditary disease that poses a challenge to clinicians of any special ity. Affecting numerous organ systems, this disease has a high tendency to develop tumours, primarily damages the peripheral and central nervous system, and requires certain knowledge and constant diagnostic monitoring. Complications of neurofibromatosis type 1 can vary significantly between people, even within the same family. The neurofibromatosis gene NF1 has one of the highest mutation rates, with more than 3700 pathogenic mutation vari ants described in the literature, requiring careful differential diagnosis. Clinical manifestations of the disease can be highly variable, ranging from exclusively skin lesions to the involvement of various organs, making the development of the disease unpredictable and its prognosis unclear and uncertain. In recent years, the understanding of this dis ease has improved significantly as a result of the creation of special diagnostic and observation centres. However, the problem of a one-sided view of a patient with neurofibromatosis still remains. It is difficult for an ophthalmolo gist, neurologist, dermatologist, cardiologist, oncologist and other specialists to analyse the diverse clinical picture of such patients from birth throughout their lives alone, so the role of an interdisciplinary approach with an expert neurofibromatosis coordinator is extremely important for timely referral of patients for additional diagnostic testing and timely treatment and prevention of complications, which is the key to improving the overall quality of life