ANA PAULA MARTE CHACRA

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Instituto do Coração, Hospital das Clínicas, Faculdade de Medicina - Médico

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  • article 26 Citação(ões) na Scopus
    Phenotypical, Clinical, and Molecular Aspects of Adults and Children With Homozygous Familial Hypercholesterolemia in Iberoamerica
    (2020) ALVES, Ana Catarina; ALONSO, Rodrigo; DIAZ-DIAZ, Jose Luis; MEDEIROS, Ana Margarida; JANNES, Cinthia E.; MERCHAN, Alonso; VASQUES-CARDENAS, Norma A.; CUEVAS, Ada; CHACRA, Ana Paula; KRIEGER, Jose E.; ARROYO, Raquel; ARRIETA, Francisco; SCHREIER, Laura; CORRAL, Pablo; BANARES, Virginia G.; ARAUJO, Maria B.; BUSTOS, Paula; ASENJO, Sylvia; STOLL, Mario; DELL'OCA, Nicolas; REYES, Maria; RESSIA, Andres; CAMPO, Rafael; MAGANA-TORRES, Maria T.; METHA, Roopa; AGUILAR-SALINAS, Carlos A.; CEBALLOS-MACIAS, Jose J.; MORALES, Alvaro J. Ruiz; MATA, Pedro; BOURBON, Mafalda; SANTOS, Raul D.
    Objective: Characterize homozygous familial hypercholesterolemia (HoFH) individuals from Iberoamerica. Approach and Results: In a cross-sectional retrospective evaluation 134 individuals with a HoFH phenotype, 71 adults (age 39.3 +/- 15.8 years, 38.0% males), and 63 children (age 8.8 +/- 4.0 years, 50.8% males) were studied. Genetic characterization was available in 129 (96%). The majority (91%) were true homozygotes (true HoFH, n=79, 43.0% children, 46.8% males) or compound heterozygotes (compound heterozygous familial hypercholesterolemia, n=39, 51.3% children, 46.2% males) with putative pathogenic variants in theLDLR. True HoFH due toLDLRvariants had higher total (P=0.015) and LDL (low-density lipoprotein)-cholesterol (P=0.008) compared with compound heterozygous familial hypercholesterolemia. Children with true HoFH (n=34) tended to be diagnosed earlier (P=0.051) and had a greater frequency of xanthomas (P=0.016) than those with compound heterozygous familial hypercholesterolemia (n=20). Previous major cardiovascular events were present in 25 (48%) of 52 children (missing information in 2 cases), and in 43 (67%) of 64 adults withLDLRvariants. Children who are true HoFH had higher frequency of major cardiovascular events (P=0.02), coronary heart (P=0.013), and aortic/supra-aortic valve diseases (P=0.022) than compound heterozygous familial hypercholesterolemia. In adults, no differences were observed in major cardiovascular events according to type ofLDLRvariant. From 118 subjects withLDLRvariants, 76 (64%) had 2 likely pathogenic or pathogenic variants. In 89 subjects with 2LDLRvariants, those with at least one null allele were younger (P=0.003) and had a greater frequency of major cardiovascular events (P=0.038) occurring at an earlier age (P=0.001). Conclusions: There was a high frequency of cardiovascular disease even in children. Phenotype and cardiovascular complications were heterogeneous and associated with the type of molecular defect.