Treatment target achieved in most children with familial hypercholesterolaemia

Background Untreated familial hypercholesterolaemia (FH) leads to atherosclerosis, which may be prevented by lifestyle modifications and medical treatment. Information on FH treatment and its efficacy in Finnish children is scarce.

Methods We collected FH diagnoses in paediatric patients in KUH from 2000 to 2020. Family data, gene mutations, plasma lipid values, and medication were analysed.

Results Of the 45 patients whose FH diagnosis was confirmed, 21 (47%) were girls. Mean age at diagnosis was 7.5 years (range 1.9 to 15.1 years). Of the Finnish major LDL receptor gene mutations, FH-North Karelia was the most common (52%), followed by FH-Helsinki (14%), and FH-Pogosta (7%). Every fourth mutation was not one of the Finnish major mutations. Pravastatin was chosen as the first drug in 76% of the children, but the most common drug during transition to the care of an adult unit was atorvastatin (60%). In medically treated patients, mean plasma LDL-cholesterol was 5.4 mmol/l at the beginning of the follow-up, and 3.0 mmol/l at the end (decrease 43%).

Conclusions Gene testing for common mutations cannot detect all children with FH. The treatment target is achieved in most patients. The position of pravastatin as a primary medication in children should be critically considered

Joona Lyly, Tanja Kuiri-Hänninen, Jarmo Jääskeläinen

Joona Lyly

Medical Student

University of Eastern Finland