Cardiovascular Outcome of Pediatric Patients With Bi-Allelic (Homozygous) Familial Hypercholesterolemia Before and After Initiation of Multimodal Lipid Lowering Therapy Including Lipoprotein Apheresis
Section snippets
Methods
Inclusion criteria for this open, observational retrospective and partially prospective multicenter study were the genetically proven diagnosis of hoFH or c-hetFH, the initiation of chronic LA as pediatric patients, that is, before the age of 18 years, and written informed consent of parents or legal guardians of the participating children and adolescents. There were no exclusion criteria, if these criteria were met. Fourteen specialized nephrological treatment centers including 8 departments
Results
Twenty-four patients (10 female) with genetically proved hoFH or c-hetFH commencing chronic LA before the age of 15 were enrolled, representing all patients meeting the inclusion criteria in the participating centers. Since birth mean follow-up was 17.2 ± 5.6 years with a range of 9.1 years to 32.2 years. Mean age at time of diagnosis of FH was 6.3 ± 3.4 years (Figure 1). In these, 21 were diagnosed due to clinical findings of lipid deposition in xanthomas or xanthelasmas. Three patients (#4,
Discussion
Severe hypercholesterolemia and likelihood of premature death from ASCVD complications still make bi-allelic FH, that is, hoFH or c-hetFH a therapeutic challenge. Twenty-four patients were included in this retrospective and partly prospective investigation, who commenced regular LA treatment before the mean age of 9 years. Long-term clinical profiles were analysed with a mean follow-up of 17.2 years since birth. The diagnosis of FH in general is classified as high-risk morbid condition by the
Authors cobtribution
Christina Taylan: Conceptualization, Methodology, Resources, Formal analysis, Investigation, Writing - Original Draft, Writing - Review & Editing.
Joenna Driemeyer: Resources, Writing - Review & Editing.
Claus P. Schmitt: Resources, Writing - Review & Editing.
Lars Pape: Resources, Writing - Review & Editing.
Rainer Büscher: Resources, Writing - Review & Editing.
Matthias Galiano: Resources, Writing - Review & Editing.
Jens König: Resources, Writing - Review & Editing.
Carsten Schürfeld: Resources,
Conflict of Interest Statement
Andreas Heibges and Reinhard Klingel are employees of Apheresis Research Institute, which received research grants from Diamed, Cologne Germany, and Asahi Kasei Medical, Tokyo Japan. For all other authors none conflict of interest is declared.
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Funding of this study was part of an unrestricted research grant from Diamed, Cologne, Germany, to Apheresis Research Institute, covering costs of ethics votes, personal costs and travel expenses. Supported by the German Society for Pediatric Nephrology (GPN).