Coordinated medical care for children with neurofibromatosis type 1 and related RASopathies in Poland

Marek W. Karwacki, Mariusz Wysocki, Marta Perek-Polnik, Agnieszka Jatczak-Gaca
2019 Archives of Medical Science  
A b s t r a c t Coordinated medical care offered in Poland for patients suffering from neurofibromatosis type 1 and related RASopathies combines complex multispecialty consultation with permanent supervision and the patient's oriented longitudinal care. Neurofibromatosis type 1 is one of the most common single gene disorders in the global population, observed in 1 out of 2500-3000 live births. It is a primary neoplasia disease with 100% penetration of the gene mutation but remarkable
more » ... markable age-dependent onset of different disease signs and symptoms, outstanding clinical heterogeneity between patients even in one family and lack of genotype-phenotype correlation, a high rate of spontaneous mutation exceeding 50%, and multiple comorbidities among which increased risk of malignancy is the most important. Medical practice proved that not only patient-oriented complex but also coordinated care provided in centers of competence is indispensable for patients and the families and provides a sense of medical security to them in conjunction with public health costs rationalization.
doi:10.5114/aoms.2019.85143 fatcat:dbeuagbc2jem3d55uhxrxcoywy