ALINE COELHO ROCHA CANDOLO

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  • article 0 Citação(ões) na Scopus
    Lysosomal Acid Lipase Deficiency in the Etiological Investigation of Cryptogenic Liver Disease in Adults: A Multicenter Brazilian Study
    (2023) CANDOLO, Aline Coelho Rocha; CANCADO, Guilherme Grossi Lopes; ZITELLI, Patricia Momoyo; MAZO, Daniel Ferraz de Campos; OLIVEIRA, Claudia Pinto Marques; CUNHA-SILVA, Marlone; GRECA, Raquel Dias; ARAUJO, Roberta Chaves; ALUSTAU, Amanda Sacha Paulino Tolentino; COUTO, Claudia Alves; NARDELLI, Mateus Jorge; LIMA, Roque Gabriel Rezende de; FARIAS, Alberto Queiroz; CARRILHO, Flair Jose; PESSOA, Mario Guimaraes
    Background: Lysosomal acid lipase deficiency (LAL-D) is a rare genetic disease associated with the deregulation of lipid metabolism, leading to atherosclerosis, dyslipidemia, and hepatic steatosis, with potential progression to cirrhosis. Our study aims to assess the role of LAL-D in the setting of cryptogenic liver disease. Methods: A large multicenter cross-sectional study was conducted, which included 135 patients with cryptogenic liver disease from four liver centers in Brazil. All patients were submitted to the investigation of LAL enzyme activity on dried blood spots. Results: Three patients (two female) presented levels of LAL below the reference limit, compatible with LAL-D (2.2%). They had a mean age of 43.9 +/- 10.1 years and a mean body-mass index (BMI) of 23.1 +/- 1.7 kg/m2. The mean serum levels of glucose, HDL-cholesterol, and triglycerides were 89.7 +/- 3.2, 21.7 +/- 3.2, and 206.7 +/- 25.5 mg/dL, respectively. All patients had duodenal polyposis with xanthomatous macrophages. LAL-D investigation should be considered for individuals with chronic liver disease of an unknown etiology, especially with a normal BMI, high triglycerides, and low-HDL-cholesterol levels. The identification of LAL-D patients is extremely important since enzyme replacement therapy with Sebelipase Alfa significantly increases their survival.
  • conferenceObject
    THE IMPORTANCE OF LYSOSOMAL ACID LIPASE DEFICIENCY INVESTIGATION IN THE ETIOLOGICAL INVESTIGATION OF CHRONIC CRYPTOGENIC LIVER DISEASES
    (2019) PESSOA, Mario G.; CANDOLO, Aline Coelho Rocha; ZITELLI, Patricia; SINGER, Julio Da Motta; MAZO, Daniel; CUNHA-SILVA, Marlone; GRECA, Raquel D.; OLIVEIRA, Claudia P. M. S.; LIMA, Roque G.; COUTO, Claudia A.; ARAUJO, Roberta Chaves; FARIAS, Alberto Q.; CARRILHO, Flair J.