If a participant tests positive for Familial Hypercholesterolemia (FH) and their cholesterol levels are well-controlled, do they still need to see a cardiologist?

While controlling cholesterol levels is an essential part of managing FH, it is not the only aspect to consider. Seeing a cardiologist may be important because they specialize in diagnosing and treating heart conditions. FH increases the risk of developing cardiovascular problems, such as coronary artery disease and heart attacks. A cardiologist can assess overall cardiovascular health, evaluate additional risk factors, and provide appropriate recommendations or treatments to further reduce risk. They may conduct additional tests, such as a thorough cardiovascular evaluation or imaging studies, to assess risk and tailor a treatment plan specifically to the patient. Regular follow-ups with a cardiologist can help with monitoring, identifying any changes or new risks, and adjusting management accordingly. It is recommended that pariticipants who test positive for FH speak with a genetic counselor or with their personal healthcare provider to further discuss referral to a cardiologist.