Incidental diagnosis of familial hypercholesterolaemia in a mother–daughter pair: the underdiagnosis of the disease highlighting the need for universal screening

Familial hypercholesterolaemia (FH) is a common yet underdiagnosed genetic disorder of low-density lipoprotein metabolism leading to premature cardiovascular disease. Most FH individuals are only diagnosed later in their adulthood, missing the critical window for pre-emptive treatment. The absence of clinical manifestations until adulthood and poor awareness by medical and general communities contribute to this unmet clinical need. This case report describes a mother-daughter pair diagnosed with FH after hypercholesterolaemia was incidentally detected in the daughter during an evaluation for obesity. This underscores the importance of increasing awareness among primary care physicians about the clinically silent nature of FH. As the first point of contact for patients, they play a vital role in identifying potential FH cases during routine clinical encounters. Simultaneously, efforts should focus on developing a cost-effective universal screening programme.