RISKS OF UNDIAGNOSING FAMILY HYPERCHOLESTEROLEMIA IN CHILDREN: A Systematic Review

• DOI: https://doi.org/10.22533/at.ed.1594222420026

• Palavras-chave: Type II hyperlipoproteinemia. Children. Diagnosis. Risk Groups

• Keywords: Type II hyperlipoproteinemia. Children. Diagnosis. Risk Groups

• Abstract:

  Introduction: Familial hypercholesterolemia is an autosomal dominant disease related to lipoprotein metabolism. It is characterized by an increase in cholesterol levels, mainly low-density lipoprotein cholesterol. Objective: To identify the main risks that not diagnosing familial hypercholesterolemia in children can pose to their health. Method: This is a Systematic Review, carried out from April to June 2019, considering the PubMed/MEDLINE database with MESH (Medical Subject Heading) descriptors: “Hyperlipoproteinemia Type II”, “child”, “risk groups”, “diagnosis”. The inclusion criteria in the research were: articles published from 2009 to 2019, in English, French and Portuguese. Exclusion criteria: review articles, case reports, book chapters, articles not available for free and studies carried out with patients over 18 years of age. Given the established parameters, 11 articles were read in full. Results: It was analyzed that early diagnosis in children is essential in treatment, helping to prevent cardiovascular diseases. The process of identifying familial hypercholesterolemia can be facilitated through genetic screening techniques among the patient's family members, which evaluates the genetic pattern. Furthermore, some treatment alternatives were established, seeking to discuss the effects of these procedures on pediatric patients. The different types of genetic manifestation and their specific symptoms were other aspects evaluated in the study. Conclusion: The importance of early diagnosis in children in the prevention, especially of cardiovascular diseases, was observed. Furthermore, pediatric familial hypercholesterolemia is a subject that requires further studies in order to find new and more effective methods for treatment.