Issues with the Diagnosis of Familial Hypercholesterolemia in Pediatric Patients
Familial hypercholesterolemia (FH) is a genetic disorder that can lead to the buildup of cholesterol in the arteries of those affected. This, in turn, can lead to the development of serious cardiac events during early adulthood and the risk of developing heart disease or having a heart attack or stroke that is 20 times higher than the general population. Timely screening for elevated lipid levels can identify both individuals and families at risk for the disorder, and lead to a referral to the proper cardiovascular and genetic specialists including genetic counselors. This study aims to explore and find any observable trends that may families who have undergone testing have undertaken and using those to make an effective implementation strategy. Data for this study was collected from the transcription of informational interviews parents had with a genetic counselor about their children regarding barriers to screening and family risk communication. Upon conducting this study, the results showed that there was a prevalent misunderstanding in regards to the risk of FH in causing heart disease as well as the risk of other siblings having the disorder. It was also found that there was a general lack of communication amongst family members regarding FH and the need to get tested. Considering these participants were parents who had children with FH, the vast majority of people who have the disorder and are untested most likely require more education and present with more barriers to screening and communication.