Familial dyslipidemia: a case from practice

According to the leading world publications, near 450,000 children worldwide are born with familial hypercholesterolemia. However, there is still the problem of untimely confirmation of this pathological condition in the pediatric cohort of patients, as well as questions about the effectiveness of diagnosis and treatment. Aim - to study the prevalence and course features of familial hyperlipidemia in young children, according to leading scientific sources and own practical experience, for physicians to get acquainted. More than 28,000 papers were found in the research databases on the subject of the study. A generalization of literary data was carried out. A clinical case of familial dyslipidemia in patient M. aged 1 month and 17 days was described. Disease manifested with the appearance of multiple xanthomas on the skin of the trunk, 0.3-0.5 cm in diameter, at the background of intoxication. Signs of anemic syndrome, increased levels of certain liver enzymes (aspartate aminotransferase, lactate dehydrogenase), as well as hypertriglyceridemia and hypercholesterolemia took place. Decreased level of fecal Elastase-I was noticed to confirm early signs of pancreatic insufficiency. The diagnosis of familial hyperlipoproteinemia type V according to Friedreichson was confirmed at the Center for Orphan Diseases and Gene Therapy of the National Children's Specialized Hospital. Conclusions. According to various data, familial dyslipidemia, confirmed genetically, occurs in 89.9% of cases that are included in the registry of Familial Hypercholesterolaemia Studies Collaboration (FHSC). The clinical case presented for consideration confirms the genetic component and early manifestation of symptoms in an infant whose sibs also have similar symptoms to those of past acute hyperlipidemic pancreatitis. The research was carried out in accordance with the principles of the Declaration of Helsinki. Copyright agreement from the child's parents was obtained for the study. The authors declare no conflict of interest.