PAULO CALEB JUNIOR DE LIMA SANTOS

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LIM/13 - Laboratório de Genética e Cardiologia Molecular, Hospital das Clínicas, Faculdade de Medicina

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  • article 3 Citação(ões) na Scopus
    Quality of life scores differs between genotypic groups of patients with suspected hereditary hemochromatosis
    (2018) FONSECA, Paula Fernanda Silva; CANCADO, Rodolfo Delfini; NAOUM, Flavio Augusto; DINARDO, Carla Luana; FONSECA, Guilherme Henrique Hencklain; GUALANDRO, Sandra Fatima Menosi; KRIEGER, Jose Eduardo; PEREIRA, Alexandre Costa; BRISSOT, Pierre; SANTOS, Paulo Caleb Junior Lima
    Background: Hereditary hemochromatosis (HH) encompasses a group of autosomal recessive disorders mainly characterized by enhanced intestinal absorption of iron and its accumulation in parenchymal organs. HH diagnosis is based on iron biochemical and magnetic resonance imaging (MRI) assessment, and genetic testing. Questionnaires, such as SF-36 (short form health survey), have been increasingly used to assess the impact of diseases on the patient's quality of life (QL). In addition, different genotypes are identified as results of genetic tests in patients with suspected primary iron overload. In the present study, our aim was to evaluate whether domains of QL are different according to genotypic groups in patients suspected of HH. Methods: Seventy-nine patients with primary iron overload were included and two genotypic groups were formed (group 1: homozygous genotype for the HFE p.Cys282Tyr mutation; group 2: other genotypes). Results: Group 1 had higher means of plasma transferrin saturation (86 +/- 19%) and serum ferritin (1669 +/- 1209 ng/mL) compared to group 2 (71 +/- 12%, 1252 +/- 750 ng/mL, respectively; p = 0.001). Four domains were significantly different among groups 1 and 2: physical functioning (p = 0.03), bodily pain (p = 0.03), vitality (p = 0.02) and social functioning (p = 0.01). Conclusions: Our main finding was that patients with p. Cys282Tyr homozygosity had a worse QL scenario assessed by SF-36, compared with patients with iron overload without the same genotype. Being aware of this relationship between genotypes and QL might be helpful in the overall management of patients suspected of hereditary hemochromatosis.
  • article 39 Citação(ões) na Scopus
    Therapeutic recommendations in HFE hemochromatosis for p.Cys282Tyr (C282Y/C282Y) homozygous genotype
    (2018) ADAMS, Paul; ALTES, Albert; BRISSOT, Pierre; BUTZECK, Barbara; CABANTCHIK, Ioav; CANCADO, Rodolfo; DISTANTE, Sonia; EVANS, Patricia; EVANS, Robert; GANZ, Tomas; GIRELLI, Domenico; HULTCRANTZ, Rolf; MCLAREN, Gordon; MARRIS, Ben; MILMAN, Nils; NEMETH, Elizabeta; NIELSEN, Peter; PINEAU, Brigitte; PIPERNO, Alberto; PORTO, Graca; PRINCE, Dianne; RYAN, John; SANCHEZ, Mayka; SANTOS, Paulo; SWINKELS, Dorine; TEIXEIRA, Emerencia; TOSKA, Ketil; VANCLOOSTER, Annick; WHITE, Desley
    Although guidelines are available for hereditary hemochromatosis, a high percentage of the recommendations within them are not shared between the different guidelines. Our main aim is to provide an objective, simple, brief, and practical set of recommendations about therapeutic aspects of HFE hemochromatosis for p. Cys282Tyr (C282Y/C282Y) homozygous genotype, based on the published scientific studies and guidelines, in a form that is reasonably comprehensible to patients and people without medical training. This final version was approved at the Hemochromatosis International meeting on 12th May 2017 in Los Angeles.