Table 2.
Genotypic characterization of FH subjects in the structured cohort.
| Variable | Usual Responders | True Unusual Respondersa |
|---|---|---|
| Genetic testing, N | 31 | 10 |
| Likely causative mutations, N (%) | 17 (54.8%) | 4 (40%) |
| Mutated Gene, N | ||
| LDLR | 13 | 3 |
| APOB | 4 | 1 |
| Gene Mutation | ||
| LDLR | ||
| c.798T > A (p.Asp266Glu), heterozygous | c.798T > A (p.Asp266Glu), heterozygous | |
| c.223T > A (p.Cys75Ser), heterozygous | c.1567G.A (p.Val523Met, chr19.GRCH37:g.11224419G > A), heterozygous | |
| deletion (exons 11–12), heterozygous | c.1964del (p.Phe655Serfs∗10), heterozygous | |
| c.1090T.C (p.Cys364Arg), heterozygous | ||
| p.D90E (also known as c.270T > A), heterozygous | ||
| c.131G > A (p.Trp44a), heterozygous | ||
| Two mutations: LDLR A391T; LDLR M652T, heterozygous | ||
| c.682G > T (p.Glu228a), heterozygous | ||
| c.259T > G (p.Trp87Gly), heterozygous | ||
| c.501C > A (p.Cys167a), heterozygous | ||
| c.858C > A (p.Ser286Arg), heterozygous | ||
| APOB | ||
| c.10580G > A (p.Arg3527Gln), heterozygous (two patients) | 10580G > A (p.Arg3527Gln), heterozygous | |
APOB, apolipoprotein B;LDLR, low-density lipoprotein receptor; N, number; PCSK9, protein convertase subtilisin/kexin type 9.
†Description of specific gene mutation was not available for all patients in whom genetic testing was performed.
a
Without adherence complications: regression of lifestyle interventions, discontinuing background lipid-lowering therapy, discontinuing PCSK9i, and/or suboptimal dose.