Short summary

Familial hypercholesterolemia (FH) is the most common inherited disease of the lipid metabolism, however it remains underdiagnosed. Only 15 % of 30.000 possible patients have been found in Denmark. This quality assessing project will through a step wedge cluster randomized controlled trial evaluate establishment of a biochemistry interpretive comment on elevated LDL-C levels. The study will test if the comment results in an increase in referred patients to the lipid clinics of Southern Denmark.

Rationale

In the last 12-14 years systematic cascade screening of FH families have been used in Denmark to track and find FH patients. The patients have since 2020 been registered in the National clinical quality database for FH. However FH remains an under diagnosed disease, resulting in premature ischemic cardiovascular disease and premature cardiovascular death. Thus, there is a need for optimized screening for FH and more projects are already initiated. Detecting more FH patients will demand an increased attention on elevated cholesterol. A biochemistry interpretive comment on elevated LDL-C according to the Danish FH Guideline regarding when to suspect FH, encouraging to further investigation for secondary dyslipidemia and successive referral to lipid clinic suspecting FH, can theoretically increase the awareness of FH. This study will try to optimize screening for FH by investigating the effect of a biochemistry interpretive comment when LDL-C is significantly elevated according to the Danish FH guideline. The comment will encourage to further investigation and referral to local lipid clinic. The purpose is to test the effect of the interpretive comment regarding the proportion of patients referred to the lipid clinics as the primary endpoint. As the secondary endpoints we wish to calculate the change in LDL-C from referral to first contact in the lipid clinic, and the proportion of new diagnosed patients with FH at the lipid clinics in the Region of Southern Denmark.

Description of the cohort

A retrospective study of patients referred to the lipid clinics in the Region of Southern Denmark on suspicion of FH in the periode 01.06.2022 - 01.08.2024 corresponding to the implementation periode of the interpretive comment on LDL-C values

Data and biological material

Patient medical record data and regarding refferal lists for the lipid clinics.

Collaborating researchers and departments

Department of Cardiology, Kolding Sygehus Lillebælt

Department of Cardiology, Vejle Sygehus Lillebælt

Department of Cardiology, Esbjerg Sydvestjysk Sygehus

Department of Cardiology, Aabenraa Sygehus Sønderjylland

Department of Cardiology, Svendborg, Odense Universitets Hospital

Publications associated with the project

Clinical trials registration: NCT05614219