A Danish nationwide study of individuals suspected of FH referred from general practice to lipid clinics: Clinical characteristics, plasma lipoprotein(a) and final diagnosis

Abstract

Background and Aims : Familial hypercholesterolemia (FH) is an inherited condition characterized by severely elevated plasma levels of low-density lipoprotein (LDL) cholesterol believed to occur in approximately 1:250 subjects. FH is associated with a very high risk of premature atherosclerotic cardiovascular disease. Unfortunately, less than 20% of the affected are currently diagnosed in Denmark, which represents a health challenge here and in most other (Western) countries. The aims of the study were to describe important clinical characteristics and examine the proportion of verified FH diagnoses among adult subjects referred from General Practice to Danish Lipid Clinics on suspicion of FH. Also we aimed to investigate the importance of plasma lipoprotein(a) levels for a diagnosis of FH.Methods: All subjects referred from General Practice to one of the 15 Danish Lipid Clinics between September 2020 and November 2021 will be included. More than 1.200 individuals are expected to be recruited into the study and informed consent will be obtained from the subjects. Referrals for suspicion of FH were based on pre-specified criteria including LDL cholesterol levels > 5.0 mmol/l (> 4.0 mmol/l in subjects < 40 years) or premature cardiovascular disease. Secondary dyslipidaemias were excluded before admittance. Individuals were interviewed for personal and familial cardiovascular disease, diet, lifestyle, treatment and examined for cholesterol deposits. Individuals were classified according to the Dutch Lipid Clinic Network Score for FH.Results: Main results will be available in April 2022 and will be presented at the Congress.Conclusions: Will be presented when the results are available. Background and Aims : Familial hypercholesterolemia (FH) is an inherited condition characterized by severely elevated plasma levels of low-density lipoprotein (LDL) cholesterol believed to occur in approximately 1:250 subjects. FH is associated with a very high risk of premature atherosclerotic cardiovascular disease. Unfortunately, less than 20% of the affected are currently diagnosed in Denmark, which represents a health challenge here and in most other (Western) countries. The aims of the study were to describe important clinical characteristics and examine the proportion of verified FH diagnoses among adult subjects referred from General Practice to Danish Lipid Clinics on suspicion of FH. Also we aimed to investigate the importance of plasma lipoprotein(a) levels for a diagnosis of FH. Methods: All subjects referred from General Practice to one of the 15 Danish Lipid Clinics between September 2020 and November 2021 will be included. More than 1.200 individuals are expected to be recruited into the study and informed consent will be obtained from the subjects. Referrals for suspicion of FH were based on pre-specified criteria including LDL cholesterol levels > 5.0 mmol/l (> 4.0 mmol/l in subjects < 40 years) or premature cardiovascular disease. Secondary dyslipidaemias were excluded before admittance. Individuals were interviewed for personal and familial cardiovascular disease, diet, lifestyle, treatment and examined for cholesterol deposits. Individuals were classified according to the Dutch Lipid Clinic Network Score for FH. Results: Main results will be available in April 2022 and will be presented at the Congress. Conclusions: Will be presented when the results are available.