The PhD defense will take place

Friday June 16, 2023
Time: 12.00
Place: Auditorium Medicinerhuset, Mølleparkvej 4, 3. etage, Aalborg Universitetshospital

After the defense there will be held a reception. All are welcome.

About the PhD thesis

Familial hypercholesterolaemia (FH) is a dominantly inherited common cause of high LDL-cholesterol and subjects with FH have a high risk of atherosclerosis and premature cardiovascular disease (CVD). FH is underdiagnosed with less than one fourth of the assumed 30,000 Danes with FH diagnosed and many insufficiently treated. There is a documented effect of treatment of FH and indications that early treatment may lower the risk of CVD substantially. It is therefore important to find (and treat) subjects and families with FH.

This PhD thesis aimed to study characteristics and diagnoses of subjects referred to lipid clinics on suspicion of FH with focus on the use of genetic testing for FH, referral criteria, and LDL-cholesterol levels. Further, the significance of lipoprotein(a) [LP(a)], that also carries cholesterol, for the diagnosis of FH and for the risk of CVD was also investigated.

Data were achieved from a study of 1,502 patients referred for suspected FH to all Danish Lipid Clinics for a 15-month period. The associations between lp(a) and FH in relation to risk atherosclerotic CVD was investigated among 69,644 individuals enrolled into the Copenhagen General Population Study.

The main findings were that a total of 26% of those referred were diagnosed with FH; that genetic testing was important and increased the number of individuals diagnosed with FH from 22% to 37% and that Lp(a) was important for the diagnosis of FH and for the risk of CVD. The current criteria for referral of individuals to lipid clinics due to suspicion of FH was examined and considered appropriate. A more widespread use of genetic testing for FH and measurement of Lp(a) in in subjects suspected of FH is recommended.