Familial Hypercholesterolemia Screening, Diagnosis, Treatment, and Prevention - Current Knowledge and Novel Possibilities in the Region

Familial hypercholesterolemia (FH) is one of the most frequent monogenic diseases, but significantly underdiagnosed and undertreated, though its timely recognition and management could be life-saving. Objective: Given the novel diagnostic and therapeutic possibilities, raising awareness in physicians treating hypercholesterolemia about the familial form and sharing current experience could improve the management of those affected by the disease. Material and method: A questionnaire was addressed to physicians treating hypercholesterolemia in the region about the familial form, covering 8 topics regarding diagnosis, prognosis, genetic testing and counseling, by the use of case presentations and medical pedigrees. Results: Approximately 1/5 of the addressed physicians treating hypercholesterolemia responded to our survey, mainly younger family phsyicians, cardiologists and diabetologists, who suspected the familial form in about 5% of their cases. Correct diagnosis based on the MEDPED and Simon Broome system recommended criteria, recognition and interpretation of the characteristic xanthoma or arcus cornealis in photographs characterized less than half of the respondents, while adequate risk assessment based on LDL-C levels and classical risk factors was present in approximately 2/3. Indications of early lipid screening, the possibilities and value of genetic testing and advice were less recognized, but the obtained results were better in the case of pedigree analysis, cascade screening and risk calculation in the family. Conclusion: For the optimal management of familial hypercholesterolemia characterized by important genetic heterogeneity, a continuous education of the physicians treating patients with hypercholesterolemia is necessary to broaden fundamental genetic education with fast developing information about the novel possibilities of diagnosis, and treatment.