Familial hypercholesterolaemia (FH) is a relatively common genetic condition that markedly increases the risk of cardiovascular disease. Nevertheless, many are diagnosed at a late stage.

In a new nationwide registry-based study, Danish researchers have mapped healthcare activity in the years preceding a diagnosis of FH. The aim was to examine how patients diagnosed with FH interacted with the healthcare system prior to diagnosis, particularly with general practice.

More consultations and investigations

The researchers found that the patients who were later diagnosed with FH had more contact with the healthcare system, specifically more consultations in general practice, for several years prior to diagnosis.

These patients also had more LDL cholesterol measurements performed and had greater use of lipid-lowering medication (including statins) than the general population. In addition, they experienced an increasing incidence of atherosclerosis-related hospital admissions, which rose gradually in the period leading up to diagnosis.

General practice – a key setting for case finding

The study suggests that general practice may play a central role in earlier identification of FH. The persistently higher levels of healthcare activity, including repeated consultations and diagnostic testing, indicate that FH may be identified at an earlier stage, for example based on a patient's risk profiles and family history, increased attention to lipid patterns or closer follow-up of treatment.

The use of simple assessment tools in general practice may facilitate earlier detection of FH. If the condition is identified at an earlier stage, treatment and preventive measures can be initiated in time. These may include cholesterol-lowering medications and lifestyle changes, which can reduce the accumulation of cholesterol in the blood vessels.

“FH is an inherited condition characterised by markedly elevated cholesterol levels in patients. It may cause no symptoms for many years, but it significantly increases the risk of developing cardiovascular disease. If we can reduce this risk, it may help lower the long-term risk of blood clots,” says Simon Graff, who is the lead author of the study.

Read the article “Healthcare activities before familial hypercholesterolemia diagnosis: a nationwide register-based study in Denmark” in BMC Primary Care. 

Further information

PhD student Simon Graff
Research Unit for General Practice, Aarhus
Email: simon.graff@ph.au.dk