Familial hypercholesterolemia (FH) is often diagnosed using lab results and family history. High levels of LDL cholesterol that do not reduce to normal levels following alterations to one’s lifestyle and diet are common among those diagnosed with FH. Additionally, those with FH often have a family history of high cholesterol and early heart disease and/or heart attacks.
Individuals with family members that are diagnosed with FH may also have this condition. Because FH is a genetic condition, it can be inherited. The children of those with FH have a 50% chance of inheriting the condition. In the rare case that both parents of the child have FH, the child can have a more severe form of FH called homozygous familial hypercholesterolemia (HoFH). Therefore, it is crucial to screen first degree relatives (parents, siblings, and children) when one family member is diagnosed.