Premium
Familial hypercholesterolaemia: Experience of a tertiary paediatric lipid clinic
Author(s) -
Yeung Jeffrey,
Chisholm Kerryn,
Spinks Catherine,
Srinivasan Shubha
Publication year - 2021
Publication title -
journal of paediatrics and child health
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.631
H-Index - 76
eISSN - 1440-1754
pISSN - 1034-4810
DOI - 10.1111/jpc.15426
Subject(s) - medicine , pediatrics , statin , demographics , retrospective cohort study , family history , lipid profile , familial hypercholesterolemia , cholesterol , demography , sociology
Aim To review the experience of a dedicated paediatric multidisciplinary lipid clinic in the management of familial hypercholesterolaemia (FH) by studying the demographics, clinical presentations as well as statin therapy and outcomes. Methods Retrospective database review of all patients under 18 years old seen in the lipid clinic at an Australian tertiary paediatric hospital between April 1999 and August 2017. Outcome measures collected included patient demographics, family history, lipid profile, age at treatment commencement, treatment outcomes and complications. Results One hundred and eight patients (53 males) were seen in the lipid clinic. Eighty‐five had low‐density lipoprotein cholesterol (LDL‐C) levels at or above the 75th percentile for sex prior to treatment. Of these, 75 had a first‐degree relative with hypercholesterolaemia and/or early cardiac death. Four patients had clinical manifestations. Thirty‐two patients (14 males) were started on statin therapy for likely FH. LDL‐C levels reduced by 2.4 mmol/L (1.4 to 2.7) in boys and 1.9 mmol/L (0.8 to 2.8) in girls at 12 month follow‐up. Five patients reported side effects requiring adjustment in therapy. Main reasons for not starting statin therapy in eligible patients were parental refusal and/or lost to follow up (77%). Conclusion A dedicated multidisciplinary lipid clinic is helpful for streamlining and monitoring management of paediatric FH. Clinical manifestations of FH are rare in children and may represent more severe form of FH or other lipid disorder. Statin therapy is efficacious and well tolerated but current recommended targets of treatment are difficult to attain. Greater awareness and coordinated services are required to overcome poor family engagement.