Diagnostic and therapeutic particularities in a case of familial hypercholesterolemia secundary to a new mutation in the APOB gene

Abstract

Throughout the hereby article I will detail the case of a five-years old patient diagnosed with a new form of familial hypercholesterolemia. This way we wish to highlight the importance of swift diagnosis of all forms of familial dyslipidaemia. A particularity of this pathology is the long amount of time when no symptoms are present, thus creating the false impression that it is a benign, and very well tolerated condition. Currently the incidence of familial dyslipidaemia is continuously increasing, posing a real public health issue, both due to the complications it displays, and the degree of disability it produces to the patients. That is why it is extremely important that the lipidic profile be included in the package of regular laboratory tests of the paediatric practice.