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Virginia Oliveira Fernandes - One of the best experts on this subject based on the ideXlab platform.

  • misdiagnosis of paget s disease of bone in a Congenital Generalized Lipodystrophy patient case report
    2021
    Co-Authors: Erika Bastos Lima Freire, Ana Paula Dias Rangel Montenegro, Mayara Ponte Madeira, Grayce Ellen Da Cruz Paiva Lima, Virginia Oliveira Fernandes, Lindenberg Barbosa Aguiar, Joao Paulo Uchoa Fontenele, Thyciara Fontenele Marques, Renan Galvao Ozorio
    Abstract:

    Paget's disease of bone (PDB) is a common skeleton disorder in which the diagnosis is suggested by radiological analyses. Congenital Generalized Lipodystrophy (CGL) is a rare, but a radiologic differential diagnosis of Paget's disease. Patients present total or almost total lack of subcutaneous adipose tissue, leptin deficiency, and precocious ectopic lipid accumulation, which lead to intense insulin resistance, poorly controlled diabetes mellitus, and hypertriglyceridemia. CGL subtypes 1 and 2 present sclerosis and osteolytic lesions that can resemble "pagetic" lesions. The clinical correlation is, therefore, essential. We report a CGL patient with bone lesions in which the radiographic findings led to a misdiagnosis of PDB. This case report brings awareness to CGL, a life-threating condition. Its early recognition is essential to avoid clinical complications and premature death. Therefore, it is important to consider CGL as PDB's differential diagnosis, especially in countries with high prevalence of this rare disease, such as Brazil.

  • sars cov 2 infection outcomes in patients with Congenital Generalized Lipodystrophy
    2021
    Co-Authors: Mayara Ponte Madeira, Ana Paula Dias Rangel Montenegro, Erika Bastos Lima Freire, Grayce Ellen Da Cruz Paiva Lima, Virginia Oliveira Fernandes, Ivana Da Ponte Melo, Jose Ednesio Da Cruz Freire, Caroline Aquino Moreiranunes, Raquel Carvalho Montenegro, Jeova Keny Baima Colares
    Abstract:

    A new strain of human coronavirus (HCoV) spread rapidly around the world. Diabetes and obesity are associated with a worse prognosis in these patients. Congenital Generalized Lipodystrophy (CGL) patients generally have poorly controlled diabetes and require extremely high doses of insulin. There is no documentation in the literature of cases of COVID in CGL patients. Thus, we aimed to evaluate the prevalence of SARS-CoV-2 infection in CGL patients, and the association of their clinical and metabolic characteristics and outcomes. This is a cross-sectional study carried out between July and October 2020. Clinical data collected were respiratory or other flu-like symptoms, need of hospitalization in the last three months, CGL comorbidities, and medications in use. Cholesterol, triglycerides, glycohemoglobin A1c levels, anti-SARS-CoV-2 antibodies and nasopharyngeal swab for RT-qPCR were also obtained in all CGL patients. Mann-Whitney U test was used to analyze the characteristics of the participants, verifying the non-adherence of the data to the Gaussian distribution. In investigating the association between categorical variables, we used Pearson's chi-square test and Fisher's exact test. A significance level of 5% was adopted. Twenty-two CGL patients were assessed. Eight subjects (36.4%) had reactive anti-SARS-CoV-2 antibodies. Only one of these, also presented detectable RT-qPCR. Five individuals (62.5%) were women, median age of 13.5 years (1 to 37). Symptoms like fever, malaise, nausea, diarrhea and chest pain were present, and all asymptomatic patients were children. All subjects had inadequate metabolic control, with no difference between groups. Among positive individuals there was no difference between those with AGPAT2 (75%) and BSCL2 gene mutations (25%) (p > 0.05). No patient needed hospitalization or died. We described a high prevalence of SARS-CoV-2 infection in CGL patients with a good outcome in all of them. These findings suggest that at least young CGL patients infected by SARS-COV-2 are not at higher risk of poor outcome, despite known severe metabolic comorbidities.

  • altered acylated ghrelin response to food intake in Congenital Generalized Lipodystrophy
    2021
    Co-Authors: Camilla Oliveira Duarte De Araujo, Renan Magalhaes Montenegro, Ana Paula Dias Rangel Montenegro, Virginia Oliveira Fernandes, Annelise Barreto De Carvalho, Amanda P Pedroso, Lila Missae Oyama, Carla Soraya Costa Maia, Eliane Beraldi Ribeiro
    Abstract:

    Background Patients with Congenital Generalized Lipodystrophy (CGL) have very low levels of leptin and are described as having a voracious appetite. However, a direct comparison between CGL and eutrophic individuals is lacking, regarding both appetite parameters and acylated ghrelin, the hormone form that is active in acute food intake stimulation. The objective of the present study was to address whether and in what extent the subjective appetite parameters and acylated ghrelin response to a meal are affected in CGL individuals, in comparison to eutrophic individuals. Additionally, an obese group was included in the study, to allow the comparison between a leptin-resistant and a leptin-deficient condition on these aspects. Methods Eutrophic controls (EUT, n = 10), obese subjects (OB, n = 10) and CGL (n = 11) were fasted overnight and then received an ad libitum meal. Blood was collected and the visual analogue scale was applied before and 90 minutes after the meal. An additional blood sample was collected at 60 minutes for ghrelin determination. Results The CGL patients showed low fasting levels of leptin and adiponectin, dyslipidemia, and insulin resistance. The caloric intake was similar among the 3 groups. However, both CGL (p = 0.02) and OB (p = 0.04) had shorter satiation times than EUT. The CGL patients also had lower satiety time (p = 0.01) and their sensation of hunger was less attenuated by the meal (p = 0.03). Fasting acylated ghrelin levels were lower in CGL than in EUT (p = 0.003). After the meal, the levels tended to decrease in EUT but not in CGL and OB individuals. Conclusion The data indicate that, although not hyperphagic, the CGL patients present appetite disturbances in relation to eutrophic individuals. Their low fasting levels of acylated ghrelin and the absence of the physiological drop after meal intake suggest a role of these disturbances in hunger attenuation and satiety but not in acute satiation.

  • Misdiagnosis of Paget’s Disease of Bone in a Congenital Generalized Lipodystrophy Patient: Case Report
    2021
    Co-Authors: Erika Bastos Lima Freire, Mayara Ponte Madeira, Grayce Ellen Da Cruz Paiva Lima, Virginia Oliveira Fernandes
    Abstract:

    Paget’s disease of bone (PDB) is a common skeleton disorder in which the diagnosis is suggested by radiological analyses. Congenital Generalized Lipodystrophy (CGL) is a rare, but a radiologic differential diagnosis of Paget’s disease. Patients present total or almost total lack of subcutaneous adipose tissue, leptin deficiency, and precocious ectopic lipid accumulation, which lead to intense insulin resistance, poorly controlled diabetes mellitus, and hypertriglyceridemia. CGL subtypes 1 and 2 present sclerosis and osteolytic lesions that can resemble “pagetic” lesions. The clinical correlation is, therefore, essential. We report a CGL patient with bone lesions in which the radiographic findings led to a misdiagnosis of PDB. This case report brings awareness to CGL, a life-threating condition. Its early recognition is essential to avoid clinical complications and premature death. Therefore, it is important to consider CGL as PDB’s differential diagnosis, especially in countries with high prevalence of this rare disease, such as Brazil

  • SARS-COV-2 infection outcomes in patients with Congenital Generalized Lipodystrophy
    2021
    Co-Authors: Mayara Ponte Madeira, Ana Paula Dias Rangel Montenegro, Erika Bastos Lima Freire, Grayce Ellen Da Cruz Paiva Lima, Virginia Oliveira Fernandes, Ivana Da Ponte Melo, Jose Ednesio Da Cruz Freire, Raquel Carvalho Montenegro, Caroline De Fátima Aquino Moreira-nunes, Jeova Keny Baima Colares
    Abstract:

    Abstract Background A new strain of human coronavirus (HCoV) spread rapidly around the world. Diabetes and obesity are associated with a worse prognosis in these patients. Congenital Generalized Lipodystrophy (CGL) patients generally have poorly controlled diabetes and require extremely high doses of insulin. There is no documentation in the literature of cases of COVID in CGL patients. Thus, we aimed to evaluate the prevalence of SARS-CoV-2 infection in CGL patients, and the association of their clinical and metabolic characteristics and outcomes. Methods This is a cross-sectional study carried out between July and October 2020. Clinical data collected were respiratory or other flu-like symptoms, need of hospitalization in the last three months, CGL comorbidities, and medications in use. Cholesterol, triglycerides, glycohemoglobin A1c levels, anti-SARS-CoV-2 antibodies and nasopharyngeal swab for RT-qPCR were also obtained in all CGL patients. Mann-Whitney U test was used to analyze the characteristics of the participants, verifying the non-adherence of the data to the Gaussian distribution. In investigating the association between categorical variables, we used Pearson's chi-square test and Fisher's exact test. A significance level of 5% was adopted. Results Twenty-two CGL patients were assessed. Eight subjects (36.4%) had reactive anti-SARS-CoV-2 antibodies. Only one of these, also presented detectable RT-qPCR. Five individuals (62.5%) were women, median age of 13.5 years (1 to 37). Symptoms like fever, malaise, nausea, diarrhea and chest pain were present, and all asymptomatic patients were children. All subjects had inadequate metabolic control, with no difference between groups. Among positive individuals there was no difference between those with AGPAT2 (75%) and BSCL2 gene mutations (25%) (p > 0.05). No patient needed hospitalization or died. Conclusions We described a high prevalence of SARS-CoV-2 infection in CGL patients with a good outcome in all of them. These findings suggest that at least young CGL patients infected by SARS-COV-2 are not at higher risk of poor outcome, despite known severe metabolic comorbidities

Ana Paula Dias Rangel Montenegro - One of the best experts on this subject based on the ideXlab platform.

  • misdiagnosis of paget s disease of bone in a Congenital Generalized Lipodystrophy patient case report
    2021
    Co-Authors: Erika Bastos Lima Freire, Ana Paula Dias Rangel Montenegro, Mayara Ponte Madeira, Grayce Ellen Da Cruz Paiva Lima, Virginia Oliveira Fernandes, Lindenberg Barbosa Aguiar, Joao Paulo Uchoa Fontenele, Thyciara Fontenele Marques, Renan Galvao Ozorio
    Abstract:

    Paget's disease of bone (PDB) is a common skeleton disorder in which the diagnosis is suggested by radiological analyses. Congenital Generalized Lipodystrophy (CGL) is a rare, but a radiologic differential diagnosis of Paget's disease. Patients present total or almost total lack of subcutaneous adipose tissue, leptin deficiency, and precocious ectopic lipid accumulation, which lead to intense insulin resistance, poorly controlled diabetes mellitus, and hypertriglyceridemia. CGL subtypes 1 and 2 present sclerosis and osteolytic lesions that can resemble "pagetic" lesions. The clinical correlation is, therefore, essential. We report a CGL patient with bone lesions in which the radiographic findings led to a misdiagnosis of PDB. This case report brings awareness to CGL, a life-threating condition. Its early recognition is essential to avoid clinical complications and premature death. Therefore, it is important to consider CGL as PDB's differential diagnosis, especially in countries with high prevalence of this rare disease, such as Brazil.

  • sars cov 2 infection outcomes in patients with Congenital Generalized Lipodystrophy
    2021
    Co-Authors: Mayara Ponte Madeira, Ana Paula Dias Rangel Montenegro, Erika Bastos Lima Freire, Grayce Ellen Da Cruz Paiva Lima, Virginia Oliveira Fernandes, Ivana Da Ponte Melo, Jose Ednesio Da Cruz Freire, Caroline Aquino Moreiranunes, Raquel Carvalho Montenegro, Jeova Keny Baima Colares
    Abstract:

    A new strain of human coronavirus (HCoV) spread rapidly around the world. Diabetes and obesity are associated with a worse prognosis in these patients. Congenital Generalized Lipodystrophy (CGL) patients generally have poorly controlled diabetes and require extremely high doses of insulin. There is no documentation in the literature of cases of COVID in CGL patients. Thus, we aimed to evaluate the prevalence of SARS-CoV-2 infection in CGL patients, and the association of their clinical and metabolic characteristics and outcomes. This is a cross-sectional study carried out between July and October 2020. Clinical data collected were respiratory or other flu-like symptoms, need of hospitalization in the last three months, CGL comorbidities, and medications in use. Cholesterol, triglycerides, glycohemoglobin A1c levels, anti-SARS-CoV-2 antibodies and nasopharyngeal swab for RT-qPCR were also obtained in all CGL patients. Mann-Whitney U test was used to analyze the characteristics of the participants, verifying the non-adherence of the data to the Gaussian distribution. In investigating the association between categorical variables, we used Pearson's chi-square test and Fisher's exact test. A significance level of 5% was adopted. Twenty-two CGL patients were assessed. Eight subjects (36.4%) had reactive anti-SARS-CoV-2 antibodies. Only one of these, also presented detectable RT-qPCR. Five individuals (62.5%) were women, median age of 13.5 years (1 to 37). Symptoms like fever, malaise, nausea, diarrhea and chest pain were present, and all asymptomatic patients were children. All subjects had inadequate metabolic control, with no difference between groups. Among positive individuals there was no difference between those with AGPAT2 (75%) and BSCL2 gene mutations (25%) (p > 0.05). No patient needed hospitalization or died. We described a high prevalence of SARS-CoV-2 infection in CGL patients with a good outcome in all of them. These findings suggest that at least young CGL patients infected by SARS-COV-2 are not at higher risk of poor outcome, despite known severe metabolic comorbidities.

  • altered acylated ghrelin response to food intake in Congenital Generalized Lipodystrophy
    2021
    Co-Authors: Camilla Oliveira Duarte De Araujo, Renan Magalhaes Montenegro, Ana Paula Dias Rangel Montenegro, Virginia Oliveira Fernandes, Annelise Barreto De Carvalho, Amanda P Pedroso, Lila Missae Oyama, Carla Soraya Costa Maia, Eliane Beraldi Ribeiro
    Abstract:

    Background Patients with Congenital Generalized Lipodystrophy (CGL) have very low levels of leptin and are described as having a voracious appetite. However, a direct comparison between CGL and eutrophic individuals is lacking, regarding both appetite parameters and acylated ghrelin, the hormone form that is active in acute food intake stimulation. The objective of the present study was to address whether and in what extent the subjective appetite parameters and acylated ghrelin response to a meal are affected in CGL individuals, in comparison to eutrophic individuals. Additionally, an obese group was included in the study, to allow the comparison between a leptin-resistant and a leptin-deficient condition on these aspects. Methods Eutrophic controls (EUT, n = 10), obese subjects (OB, n = 10) and CGL (n = 11) were fasted overnight and then received an ad libitum meal. Blood was collected and the visual analogue scale was applied before and 90 minutes after the meal. An additional blood sample was collected at 60 minutes for ghrelin determination. Results The CGL patients showed low fasting levels of leptin and adiponectin, dyslipidemia, and insulin resistance. The caloric intake was similar among the 3 groups. However, both CGL (p = 0.02) and OB (p = 0.04) had shorter satiation times than EUT. The CGL patients also had lower satiety time (p = 0.01) and their sensation of hunger was less attenuated by the meal (p = 0.03). Fasting acylated ghrelin levels were lower in CGL than in EUT (p = 0.003). After the meal, the levels tended to decrease in EUT but not in CGL and OB individuals. Conclusion The data indicate that, although not hyperphagic, the CGL patients present appetite disturbances in relation to eutrophic individuals. Their low fasting levels of acylated ghrelin and the absence of the physiological drop after meal intake suggest a role of these disturbances in hunger attenuation and satiety but not in acute satiation.

  • SARS-COV-2 infection outcomes in patients with Congenital Generalized Lipodystrophy
    2021
    Co-Authors: Mayara Ponte Madeira, Ana Paula Dias Rangel Montenegro, Erika Bastos Lima Freire, Grayce Ellen Da Cruz Paiva Lima, Virginia Oliveira Fernandes, Ivana Da Ponte Melo, Jose Ednesio Da Cruz Freire, Raquel Carvalho Montenegro, Caroline De Fátima Aquino Moreira-nunes, Jeova Keny Baima Colares
    Abstract:

    Abstract Background A new strain of human coronavirus (HCoV) spread rapidly around the world. Diabetes and obesity are associated with a worse prognosis in these patients. Congenital Generalized Lipodystrophy (CGL) patients generally have poorly controlled diabetes and require extremely high doses of insulin. There is no documentation in the literature of cases of COVID in CGL patients. Thus, we aimed to evaluate the prevalence of SARS-CoV-2 infection in CGL patients, and the association of their clinical and metabolic characteristics and outcomes. Methods This is a cross-sectional study carried out between July and October 2020. Clinical data collected were respiratory or other flu-like symptoms, need of hospitalization in the last three months, CGL comorbidities, and medications in use. Cholesterol, triglycerides, glycohemoglobin A1c levels, anti-SARS-CoV-2 antibodies and nasopharyngeal swab for RT-qPCR were also obtained in all CGL patients. Mann-Whitney U test was used to analyze the characteristics of the participants, verifying the non-adherence of the data to the Gaussian distribution. In investigating the association between categorical variables, we used Pearson's chi-square test and Fisher's exact test. A significance level of 5% was adopted. Results Twenty-two CGL patients were assessed. Eight subjects (36.4%) had reactive anti-SARS-CoV-2 antibodies. Only one of these, also presented detectable RT-qPCR. Five individuals (62.5%) were women, median age of 13.5 years (1 to 37). Symptoms like fever, malaise, nausea, diarrhea and chest pain were present, and all asymptomatic patients were children. All subjects had inadequate metabolic control, with no difference between groups. Among positive individuals there was no difference between those with AGPAT2 (75%) and BSCL2 gene mutations (25%) (p > 0.05). No patient needed hospitalization or died. Conclusions We described a high prevalence of SARS-CoV-2 infection in CGL patients with a good outcome in all of them. These findings suggest that at least young CGL patients infected by SARS-COV-2 are not at higher risk of poor outcome, despite known severe metabolic comorbidities

  • leu124serfs 26 a novel agpat2 mutation in Congenital Generalized Lipodystrophy with early cardiovascular complications
    2020
    Co-Authors: Renan Magalhaes Montenegro, Ana Paula Dias Rangel Montenegro, Grayce Ellen Da Cruz Paiva Lima, Virginia Oliveira Fernandes, Clarisse Mourao Melo Ponte, Livia Vasconcelos Martins, Daniel P Pinheiro, Maria Elisabete Amaral De Moraes, Manoel Odorico De Moraes Filho, Catarina Brasil Dalva
    Abstract:

    Congenital Generalized Lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by the near-total loss of subcutaneous adipose tissue soon after birth, resulting in ectopic fat deposition and severe metabolic disturbances. Most cases are caused by AGPAT2 or BSCL2 gene mutations. We aimed to report two unrelated CGL patients with a novel frameshift mutation in AGPAT2 (p.Leu124Serfs*26). Clinical features and laboratory were obtained by medical interview and medical records review. DNA was extracted, amplified and sequenced. Mutation Taster was used to estimate the potential biological impact of the AGPAT2 mutations on the protein function. Patient 1: a 30-year-old woman with Lipodystrophy phenotype at birth and diagnosis of diabetes at age 13 presented with severe hypertriglyceridemia and pancreatitis at age 17, hypertension and albuminuria at age 18, proliferative diabetic retinopathy with visual loss at age 25, and an acute myocardial infarction due to multivessel coronary disease during a hospitalization for forefoot amputation at age 29. At this time, she required hemodialysis due to end-stage renal disease. Patient 2: a 12-year-old girl with Lipodystrophy phenotype and hypertriglyceridemia detected in the first year of life and abnormalities in the global longitudinal strain, evaluated by speckle-tracking echocardiography last year. Molecular analysis identified a c.369_372delGCTC (p.Leu124Serfs*26) AGPAT2 mutation in both unrelated patients, a compound heterozygous mutation in Patient 1, and homozygous mutation in Patient 2. We describe two unrelated patients with type 1 CGL due to Leu124Serfs*26, a novel AGPAT2 frameshift mutation, presenting as early cardiovascular disease. These findings suggest an association between Leu124Serfs*26 and a more aggressive phenotype.

Abhimanyu Garg - One of the best experts on this subject based on the ideXlab platform.

  • postmortem findings in a young man with Congenital Generalized Lipodystrophy type 4 due to cavin1 mutations
    2019
    Co-Authors: Nivedita Patni, Frank Vuitch, Abhimanyu Garg
    Abstract:

    Context Congenital Generalized Lipodystrophy, type 4 (CGL4) is a rare autosomal recessive disorder caused by mutations in caveolae-associated protein 1. Patients with CGL4 also have myopathy and cardiomyopathy with a predisposition for sudden death due to ventricular arrhythmias. However, the underlying pathology for these morbidities remains unknown. Therefore, we report on an autopsy of a Hispanic boy with CGL4. Case description Our patient had early-onset Generalized Lipodystrophy, feeding difficulties, myopathy, atlanto-axial dislocation, and learning disabilities. He was diagnosed with catecholaminergic polymorphic ventricular tachycardia (CPVT) at age 8 years, had poor compliance with medications, and died suddenly at age 15.3 years. Autopsy showed marked loss of subcutaneous and omental fat with no inflammatory cells in adipose tissue and normal adipocytes in the parathyroid glands. There were adipocytes interdigitating cardiac muscle fibers, with fibro-fatty infiltration in the right ventricle, near coronary sinus, and atrioventricular node. There was no evidence of coronary heart disease. The quadriceps femoris muscle did not show adipocyte infiltration, inflammation, or fibrosis. The muscularis mucosa layer was thickened in the esophagus and at the gastro-duodenal junction, and the esophagus had prominent, large nerves in the subserosa. The liver weighed 3000 g, with minimal chronic inflammation and steatosis in 40% of parenchyma, primarily in zones 2 and 3. There was no spermatogenesis in the spermatic tubules. Conclusions Our data suggest that fibro-fatty infiltration of the right ventricle may contribute to CPVT in patients with CGL4. Thick muscularis mucosa and large nerves in the esophagus likely contributed to dysphagia and dysmotility. A lack of spermatids suggests infertility in affected male patients.

  • Congenital Generalized Lipodystrophy type 4 cgl4 associated with myopathy due to novel ptrf mutations
    2010
    Co-Authors: Savitha Shastry, Anil K Agarwal, Mauricio R Delgado, Eray Dirik, Mehmet Turkmen, Abhimanyu Garg
    Abstract:

    Congenital Generalized Lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by near total absence of body fat since birth with predisposition to insulin resistance, diabetes, hypertriglyceridemia, and hepatic steatosis. Three CGL loci, AGPAT2, BSCL2, and CAV1, have been identified previously. Recently, mutations in polymerase I and transcript release factor (PTRF) were reported in five Japanese patients presenting with myopathy and CGL (CGL4). We report novel PTRF mutations and detailed phenotypes of two male and three female patients with CGL4 belonging to two pedigrees of Mexican origin (CGL7100 and CGL178) and one pedigree of Turkish origin (CGL180). All patients had near total loss of body fat and Congenital myopathy manifesting as weakness, percussion-induced muscle mounding, and high serum creatine kinase levels. Four of them had hypertriglyceridemia. Three of them had atlantoaxial instability. Two patients belonging to CGL178 pedigree required surgery for pyloric stenosis in the first month of life. None of them had prolonged QT interval on electrocardiography but both siblings belonging to CGL7100 had exercise-induced ventricular arrhythmias. Three of them had mild acanthosis nigricans but had normal glucose tolerance. Two of them had hepatic steatosis. All patients had novel null mutations in PTRF gene. In conclusion, mutations in PTRF result in a novel phenotype that includes Generalized Lipodystrophy with mild metabolic derangements, myopathy, cardiac arrhythmias, atlantoaxial instability, and pyloric stenosis. It is unclear how mutations in PTRF, which plays an essential role in formation of caveolae, affect a wide variety of tissues resulting in a variable phenotype.

  • novel subtype of Congenital Generalized Lipodystrophy associated with muscular weakness and cervical spine instability
    2008
    Co-Authors: Vinaya Simha, Patricia A Aronin, Susan T. Iannaccone, Anil K Agarwal, Abhimanyu Garg
    Abstract:

    Congenital Generalized Lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by extreme paucity of adipose tissue from birth, and early onset of metabolic complications related to insulin resistance. Mutations in three genes, 1-acylglycerol 3-phosphate-O-acyltransferase 2 (AGPAT2), Berardinelli Seip Congenital Lipodystrophy 2 (BSCL2), and Caveolin-1 (CAV1) are associated with the three subtypes of this disorder, CGL1, CGL2 and CGL3, respectively. We report two siblings of Hispanic origin who displayed characteristic features of CGL such as Generalized loss of subcutaneous fat from birth, acanthosis nigricans, acromegaloid habitus, umbilical prominence, hepatosplenomegaly, hypoleptinemia, dyslipidemia, and insulin resistance. However, no disease causing variants were detected in the DNA sequence of AGPAT2, BSCL2 or CAV1 genes. Further, whole body magnetic resonance imaging (MRI) in the two siblings revealed marked loss of subcutaneous, intraabdominal and intrathoracic fat like in other patients with CGL, but preservation of bone marrow fat which is invariably lost in all patients with CGL1 and CGL2, but not in the patient reported with CGL3. They also had Generalized muscle weakness during infancy and early childhood associated with a nearly fivefold increase in serum creatine kinase (CK) levels, but with normal muscle biopsy and electrophysiologic studies. Both patients were also found to have atlantoaxial dislocation requiring surgical intervention. Thus, this pedigree represents a novel subtype of CGL characterized by Generalized loss of body fat but with preservation of bone marrow fat, Congenital muscular weakness and cervical spine instability. The genetic basis of this novel subtype remains to be determined.

  • enzymatic activity of naturally occurring 1 acylglycerol 3 phosphate o acyltransferase 2 mutants associated with Congenital Generalized Lipodystrophy
    2005
    Co-Authors: Wasim A Haque, Abhimanyu Garg, Anil K Agarwal
    Abstract:

    Mutations in the gene encoding 1-acylglycerol-3-phosphate-O-acyltransferase 2 (AGPAT2) have been reported in patients with Congenital Generalized Lipodystrophy (CGL). AGPAT2, a 278 amino acid protein, belongs to the acyltransferase enzyme family, and has two conserved motifs, NHX(4)D and EGTR, involved in the enzymatic activity. The AGPATs catalyze acylation of lysophosphatidic acid (LPA) to phosphatidic acid (PA) during the biosynthesis of glycerophospholipids and triglycerides from glycerol-3-phosphate. The present studies were designed to determine the enzymatic activity of AGPAT2 mutants found in CGL patients to provide a molecular explanation for the phenotype and to obtain additional information about the structure-function relationship of AGPAT2 protein. The enzymatic activities of the wild type AGPAT2 and mutants were determined in cell lysates of overexpressing Chinese hamster ovary cells by measuring the conversion of [(3)H]LPA to [(3)H]PA in the presence of oleoyl-coenzyme A. Whereas, the R68X, 221delGT, 252delMRT, D180fsX251, and V167fsX183 mutants had markedly reduced enzymatic activity (median <15% of the wild type), the mutants, 140delF, G136R, and L228P, retained median activity ranging from 15% to 40% of the wild type enzyme. However, the missense mutant, A239V, had 90% of the wild type activity. We suggest that reduction in AGPAT2 enzymatic activity underlies the loss of adipose tissue in CGL. Our observations reveal an important role of various carboxy-terminal residues in determining the enzymatic activity of AGPAT2.

  • genetic basis of Congenital Generalized Lipodystrophy
    2004
    Co-Authors: Anil K Agarwal, Robert Barnes, Abhimanyu Garg
    Abstract:

    Congenital Generalized Lipodystrophy (CGL) is an autosomal recessive disorder characterized by extreme lack of body fat and severe insulin resistance since birth. Recently, mutations have been reported in 1-acylglycerol-3-phosphate-O-acyltransferase 2 (AGPAT2) and Berardinelli-Seip Congenital Lipodystrophy 2 (BSCL2 or Seipin) genes in affected subjects from pedigrees linked to chromosomes 9q34 and 11q13, respectively. The AGPAT2 catalyses the acylation of the lysophosphatidic acid at the sn-2 position to form phosphatidic acid, a key intermediate in the biosynthesis of triacylglycerol and glycerophospholipids. High expression of AGPAT2 mRNA in adipose tissue compared to other isoforms suggests that the mutations might affect the adipose tissue the most. The function of BSCL2 remains unknown. Several CGL pedigrees reveal no mutation in either of the above genes and are not linked to these loci, suggesting additional genetic loci for CGL. Thus, several distinct mechanisms can lead to extreme lack of adipose tissue in humans and cause CGL.

Renan Magalhaes Montenegro - One of the best experts on this subject based on the ideXlab platform.

  • altered acylated ghrelin response to food intake in Congenital Generalized Lipodystrophy
    2021
    Co-Authors: Camilla Oliveira Duarte De Araujo, Renan Magalhaes Montenegro, Ana Paula Dias Rangel Montenegro, Virginia Oliveira Fernandes, Annelise Barreto De Carvalho, Amanda P Pedroso, Lila Missae Oyama, Carla Soraya Costa Maia, Eliane Beraldi Ribeiro
    Abstract:

    Background Patients with Congenital Generalized Lipodystrophy (CGL) have very low levels of leptin and are described as having a voracious appetite. However, a direct comparison between CGL and eutrophic individuals is lacking, regarding both appetite parameters and acylated ghrelin, the hormone form that is active in acute food intake stimulation. The objective of the present study was to address whether and in what extent the subjective appetite parameters and acylated ghrelin response to a meal are affected in CGL individuals, in comparison to eutrophic individuals. Additionally, an obese group was included in the study, to allow the comparison between a leptin-resistant and a leptin-deficient condition on these aspects. Methods Eutrophic controls (EUT, n = 10), obese subjects (OB, n = 10) and CGL (n = 11) were fasted overnight and then received an ad libitum meal. Blood was collected and the visual analogue scale was applied before and 90 minutes after the meal. An additional blood sample was collected at 60 minutes for ghrelin determination. Results The CGL patients showed low fasting levels of leptin and adiponectin, dyslipidemia, and insulin resistance. The caloric intake was similar among the 3 groups. However, both CGL (p = 0.02) and OB (p = 0.04) had shorter satiation times than EUT. The CGL patients also had lower satiety time (p = 0.01) and their sensation of hunger was less attenuated by the meal (p = 0.03). Fasting acylated ghrelin levels were lower in CGL than in EUT (p = 0.003). After the meal, the levels tended to decrease in EUT but not in CGL and OB individuals. Conclusion The data indicate that, although not hyperphagic, the CGL patients present appetite disturbances in relation to eutrophic individuals. Their low fasting levels of acylated ghrelin and the absence of the physiological drop after meal intake suggest a role of these disturbances in hunger attenuation and satiety but not in acute satiation.

  • leu124serfs 26 a novel agpat2 mutation in Congenital Generalized Lipodystrophy with early cardiovascular complications
    2020
    Co-Authors: Renan Magalhaes Montenegro, Ana Paula Dias Rangel Montenegro, Grayce Ellen Da Cruz Paiva Lima, Virginia Oliveira Fernandes, Clarisse Mourao Melo Ponte, Livia Vasconcelos Martins, Daniel P Pinheiro, Maria Elisabete Amaral De Moraes, Manoel Odorico De Moraes Filho, Catarina Brasil Dalva
    Abstract:

    Congenital Generalized Lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by the near-total loss of subcutaneous adipose tissue soon after birth, resulting in ectopic fat deposition and severe metabolic disturbances. Most cases are caused by AGPAT2 or BSCL2 gene mutations. We aimed to report two unrelated CGL patients with a novel frameshift mutation in AGPAT2 (p.Leu124Serfs*26). Clinical features and laboratory were obtained by medical interview and medical records review. DNA was extracted, amplified and sequenced. Mutation Taster was used to estimate the potential biological impact of the AGPAT2 mutations on the protein function. Patient 1: a 30-year-old woman with Lipodystrophy phenotype at birth and diagnosis of diabetes at age 13 presented with severe hypertriglyceridemia and pancreatitis at age 17, hypertension and albuminuria at age 18, proliferative diabetic retinopathy with visual loss at age 25, and an acute myocardial infarction due to multivessel coronary disease during a hospitalization for forefoot amputation at age 29. At this time, she required hemodialysis due to end-stage renal disease. Patient 2: a 12-year-old girl with Lipodystrophy phenotype and hypertriglyceridemia detected in the first year of life and abnormalities in the global longitudinal strain, evaluated by speckle-tracking echocardiography last year. Molecular analysis identified a c.369_372delGCTC (p.Leu124Serfs*26) AGPAT2 mutation in both unrelated patients, a compound heterozygous mutation in Patient 1, and homozygous mutation in Patient 2. We describe two unrelated patients with type 1 CGL due to Leu124Serfs*26, a novel AGPAT2 frameshift mutation, presenting as early cardiovascular disease. These findings suggest an association between Leu124Serfs*26 and a more aggressive phenotype.

  • association between cardiovascular autonomic neuropathy and left ventricular hypertrophy in young patients with Congenital Generalized Lipodystrophy
    2019
    Co-Authors: Clarisse Mourao Melo Ponte, Ana Paula Dias Rangel Montenegro, Virginia Oliveira Fernandes, Livia Aline De Araujo Batista, Izabella Tamira Galdino Farias Vasconcelos, Catarina Brasil Dalva, Maria Helane Costa Gurgel, Christiane Bezerra Rocha Liberato, Lia Beatriz De Azevedo Souza Karbage, Renan Magalhaes Montenegro
    Abstract:

    Congenital Generalized Lipodystrophy (CGL) is a rare disorder characterized by the absence of subcutaneous adipose tissue, severe insulin resistance, diabetes mellitus, and cardiovascular complications, including cardiac autonomic neuropathy (CAN), left ventricular hypertrophy (LVH), and atherosclerosis. The present study aimed to access the association between CAN parameters and cardiovascular abnormalities in CGL patients. A cross-sectional study was conducted with 10 CGL patients and 20 healthy controls matched for age, sex, BMI, and pubertal stage. We evaluated clinical, laboratory, and cardiovascular parameters—left ventricular mass index (LVMI), interventricular septum thickness (IVS), systolic and diastolic function determined by two-dimensional transthoracic echocardiography; carotid intimal media thickness (cIMT); and cQT interval. Heart rate variability (HRV) was evaluated by spectral analysis components—high frequency (HF), low frequency (LF), very low frequency (VLF), LF/HF ratio, and total amplitude spectrum (TAS)—and cardiovascular reflexes tests (postural hypotension test, respiratory, orthostatic and Valsalva coefficients). In CGL group, four patients (40%) had LVH and diastolic dysfunction. HF component (parasympathetic control) was lower in LVH patients. CGL patients presented higher values of cIMT and cQT interval than heathy subjects. Inverse association between LVMI and LF (p = 0.011), IVS and LF (p = 0.007), and cIMT and leptin (p < 0.001) were observed, even after adjustments by HOMA-IR, A1c, and blood pressure. In CGL group, there were associations between LMVI and HF component (IC95%: − 1.000; − 00.553), LVMI and TAS (IC95%: − 1.000; − 0.012), and IVS and HF component (IC95%: − 1.000; − 0.371). The association between increased LV mass and parameters of HRV provides possible speculations about the involvement of CAN in the pathophysiology of the cardiac complications, including LVH, in patients with CGL.

  • aggressive papillary thyroid carcinoma in a child with type 2 Congenital Generalized Lipodystrophy
    2019
    Co-Authors: Grayce Ellen Da Cruz Paiva Lima, Ana Paula Dias Rangel Montenegro, Virginia Oliveira Fernandes, Lia Beatriz De Azevedo Sousa Karbage, Lindenberg Barbosa Aguiar, Annelise Barreto De Carvalho, Mario Sergio Rocha Macedo, Luis Alberto Albano Ferreira, Renan Magalhaes Montenegro
    Abstract:

    Thyroid carcinoma (TC) is rare in children, particularly in those aged < 10 years. Several studies have demonstrated a correlation between neoplasms and hyperinsulinemia and insulin resistance, which are often associated with a higher risk for and/or aggressiveness of the neoplasm. Congenital Generalized Lipodystrophy (CGL) with autosomal recessive inheritance is a rare disease and is characterized by the lack of adipose tissue, severe insulin resistance, and early metabolic disturbances. Here, we reported a rare case of a type 2 CGL in a girl who presented with a papillary TC (PTC) at the age of 7 years. She had no family history of TC or previous exposure to ionizing radiation. She had a Generalized lack of subcutaneous fat, including the palmar and plantar regions, muscle hypertrophy, intense acanthosis nigricans, hepatomegaly, hypertriglyceridemia, severe insulin resistance, and hypoleptinemia. A genetic analysis revealed a mutation in the BSCL2 gene (p.Thr109Asnfs* 5). Ultrasound revealed a hypoechoic solid nodule measuring 1.8 × 1.0 × 1.0 cm, and fine needle aspiration biopsy suggested malignancy. Total thyroidectomy was performed, and a histopathological examination confirmed PTC with vascular invasion and parathyroid lymph node metastasis (pT3N1Mx stage). This is the first report to describe a case of differentiated TC in a child with CGL. Severe insulin resistance that is generally observed in patients with CGL early in life, especially in those with type 2 CGL, may be associated with this uncommon presentation of aggressive PTC during childhood.

  • early commitment of cardiovascular autonomic modulation in brazilian patients with Congenital Generalized Lipodystrophy
    2018
    Co-Authors: Clarisse Mourao Melo Ponte, Carlos Negrato, Ana Paula Dias Rangel Montenegro, Virginia Oliveira Fernandes, Izabella Tamira Galdino Farias Vasconcelos, Maria Helane Costa Gurgel, Christiane Bezerra Rocha Liberato, Lia Beatriz De Azevedo Souza Karbage, Marilia B Gomes, Renan Magalhaes Montenegro
    Abstract:

    Metabolic abnormalities in Congenital Generalized Lipodystrophy (CGL) are associated with microvascular complications. However, the evaluation of different types of neuropathy in these patients, including the commitment of cardiovascular autonomic modulation, is scarce. The objective of the present study was to determine the prevalence of cardiovascular autonomic neuropathy (CAN) in patients with CGL compared with individuals with type 1 diabetes and healthy subjects. Ten patients with CGL, 20 patients with type 1 diabetes and 20 healthy subjects were included in the study. Controls were paired 1:2 for age, gender, BMI and pubertal stage. Heart rate variability (HRV) was analyzed using cardiovascular autonomic reflex tests, including postural hypotension test, Valsalva (VAL), respiratory (E/I) and orthostatic (30/15) coefficients, and spectral analysis of the HRV, determining very low (VLF), low (LF) and high (HF) frequencies components. The diagnosis of CAN was defined as the presence of at least two altered tests. CAN was detected in 40% of the CGL patients, 5% in type 1 diabetes patients and was absent in healthy individuals (p < 0.05). We observed a significant reduction in the E/I, VLF, LF and HF in CGL cases vs. type 1 diabetes and healthy individuals and lower levels of 30/15 and VAL in CGL vs. healthy individuals. A significant positive correlation was observed between leptin and 30/15 coefficient (r = 0.396; p = 0.036) after adjusting for insulin resistance and triglycerides. Autonomic cardiovascular tests were associated with HbA1c, HOMA-IR, triglycerides and albumin/creatinine ratio in CGL cases. We observed a high prevalence of CAN in young patients with CGL, suggesting that insulin resistance, hypertriglyceridemia and hypoleptinemia, may have been involved in early CAN development. Additional studies are needed to evaluate the role of leptinemia in the physiopathogenesis of the condition.

Clarisse Mourao Melo Ponte - One of the best experts on this subject based on the ideXlab platform.

  • leu124serfs 26 a novel agpat2 mutation in Congenital Generalized Lipodystrophy with early cardiovascular complications
    2020
    Co-Authors: Renan Magalhaes Montenegro, Ana Paula Dias Rangel Montenegro, Grayce Ellen Da Cruz Paiva Lima, Virginia Oliveira Fernandes, Clarisse Mourao Melo Ponte, Livia Vasconcelos Martins, Daniel P Pinheiro, Maria Elisabete Amaral De Moraes, Manoel Odorico De Moraes Filho, Catarina Brasil Dalva
    Abstract:

    Congenital Generalized Lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by the near-total loss of subcutaneous adipose tissue soon after birth, resulting in ectopic fat deposition and severe metabolic disturbances. Most cases are caused by AGPAT2 or BSCL2 gene mutations. We aimed to report two unrelated CGL patients with a novel frameshift mutation in AGPAT2 (p.Leu124Serfs*26). Clinical features and laboratory were obtained by medical interview and medical records review. DNA was extracted, amplified and sequenced. Mutation Taster was used to estimate the potential biological impact of the AGPAT2 mutations on the protein function. Patient 1: a 30-year-old woman with Lipodystrophy phenotype at birth and diagnosis of diabetes at age 13 presented with severe hypertriglyceridemia and pancreatitis at age 17, hypertension and albuminuria at age 18, proliferative diabetic retinopathy with visual loss at age 25, and an acute myocardial infarction due to multivessel coronary disease during a hospitalization for forefoot amputation at age 29. At this time, she required hemodialysis due to end-stage renal disease. Patient 2: a 12-year-old girl with Lipodystrophy phenotype and hypertriglyceridemia detected in the first year of life and abnormalities in the global longitudinal strain, evaluated by speckle-tracking echocardiography last year. Molecular analysis identified a c.369_372delGCTC (p.Leu124Serfs*26) AGPAT2 mutation in both unrelated patients, a compound heterozygous mutation in Patient 1, and homozygous mutation in Patient 2. We describe two unrelated patients with type 1 CGL due to Leu124Serfs*26, a novel AGPAT2 frameshift mutation, presenting as early cardiovascular disease. These findings suggest an association between Leu124Serfs*26 and a more aggressive phenotype.

  • association between cardiovascular autonomic neuropathy and left ventricular hypertrophy in young patients with Congenital Generalized Lipodystrophy
    2019
    Co-Authors: Clarisse Mourao Melo Ponte, Ana Paula Dias Rangel Montenegro, Virginia Oliveira Fernandes, Livia Aline De Araujo Batista, Izabella Tamira Galdino Farias Vasconcelos, Catarina Brasil Dalva, Maria Helane Costa Gurgel, Christiane Bezerra Rocha Liberato, Lia Beatriz De Azevedo Souza Karbage, Renan Magalhaes Montenegro
    Abstract:

    Congenital Generalized Lipodystrophy (CGL) is a rare disorder characterized by the absence of subcutaneous adipose tissue, severe insulin resistance, diabetes mellitus, and cardiovascular complications, including cardiac autonomic neuropathy (CAN), left ventricular hypertrophy (LVH), and atherosclerosis. The present study aimed to access the association between CAN parameters and cardiovascular abnormalities in CGL patients. A cross-sectional study was conducted with 10 CGL patients and 20 healthy controls matched for age, sex, BMI, and pubertal stage. We evaluated clinical, laboratory, and cardiovascular parameters—left ventricular mass index (LVMI), interventricular septum thickness (IVS), systolic and diastolic function determined by two-dimensional transthoracic echocardiography; carotid intimal media thickness (cIMT); and cQT interval. Heart rate variability (HRV) was evaluated by spectral analysis components—high frequency (HF), low frequency (LF), very low frequency (VLF), LF/HF ratio, and total amplitude spectrum (TAS)—and cardiovascular reflexes tests (postural hypotension test, respiratory, orthostatic and Valsalva coefficients). In CGL group, four patients (40%) had LVH and diastolic dysfunction. HF component (parasympathetic control) was lower in LVH patients. CGL patients presented higher values of cIMT and cQT interval than heathy subjects. Inverse association between LVMI and LF (p = 0.011), IVS and LF (p = 0.007), and cIMT and leptin (p < 0.001) were observed, even after adjustments by HOMA-IR, A1c, and blood pressure. In CGL group, there were associations between LMVI and HF component (IC95%: − 1.000; − 00.553), LVMI and TAS (IC95%: − 1.000; − 0.012), and IVS and HF component (IC95%: − 1.000; − 0.371). The association between increased LV mass and parameters of HRV provides possible speculations about the involvement of CAN in the pathophysiology of the cardiac complications, including LVH, in patients with CGL.

  • sleep disorders in patients with Congenital Generalized Lipodystrophy
    2018
    Co-Authors: Virginia Oliveira Fernandes, Ana Paula Dias Rangel Montenegro, Carla P Silva, Clarisse Mourao Melo Ponte, Livia Aline De Araujo Batista, Thisciane Ferreira Pinto, Izabella Tamira Galdino Farias Vasconcelos, Lia Beatriz De Azevedo Sousa Karbage, Priscila Macedo Fernandes, Catarina Brasil Dalva
    Abstract:

    Background and Aims: Sleep disorders are often associated with the several metabolic complications. Congenital Generalized Lipodystrophy (CGL) is associated with severe insulin resistance, diabetes, dyslipidemia and hepatic steatosis in non-obese individuals, but there are no data evaluating the presence of sleep disorders in this condition. The aim of this study was to describe the characteristics of sleep pattern in individuals with CGL and evaluate the presence of sleep disorders in these patients. Materials and Methods: A cross-sectional study with 8 patients with CGL. It was performed a polysomnography following the guidelines of the American Academy of Sleep Medicine. Results: There were 2 male and 6 female patients. The median age of these patients is 16,5 years old, ranging from 7 to 33 years old. All patients have hypertriglyceridemia and 6/8 had diabetes. Hepatic steatosis was observed in 4/8 cases (50%) and systemic arterial hypertension in 1/8 case (12,5%). Snore was observed in 7/8 (87,5%) of the sample. The diagnosis of obstructive sleep apnea syndrome was observed in 6/8 (75%) of the individuals, rapid eye movement sleep (REM) behavior disorder in 4/8 (50%), changes in sleep efficiency in 4/8 (50%), fragmented sleep in 8/8 (100%) and periodic leg movements in 7/8 (87,5%). There were no significant cardiovascular abnormalities in this study. Conclusion: The patients with CGL evaluated showed a high frequency of sleep disorders. These findings in a young no-obese population, but with severe metabolic abnormalities, suggest its negative impact in sleep quality of these patients, increasing the cardiovascular risk in this population. Disclosure V.O. Fernandes: None. C.P. Silva: None. A.D.R. Montenegro: None. C.M.M. Ponte: None. L.A.A. Batista: None. T.F. Pinto: None. I.T. Vasconcelos: None. L.A.S. Karbage: None. P.M. Fernandes: None. C.B. D9Alva: None. P.F.C. Bruin: None. R.M. Montenegro: None.

  • insulin resistance cardiovascular autonomic neuropathy and left ventricular hypertrophy in patients with Congenital Generalized Lipodystrophy
    2018
    Co-Authors: Virginia Oliveira Fernandes, Ana Paula Dias Rangel Montenegro, Clarisse Mourao Melo Ponte, Livia Aline De Araujo Batista, Catarina Brasil Dalva, Maria Helane Costa Gurgel, Cristiane Bezerra Rocha Liberato, M Renan J R Montenegro
    Abstract:

    Congenital Generalized Lipodystrophy (CGL) subjects have a high prevalence of cardiovascular autonomic neuropathy (CAN) and cardiac complications, including left ventricular hypertrophy (LVH). This study aimed to analyze insulin resistance (IR), CAN severity and LVH association. A cross sectional study with 10 CGL patients and 20 healthy controls. We evaluated clinical and laboratory data, echocardiogram parameters, 3 spectral analysis components - high frequency (HF), low frequency (LF), and very low frequency (VLF) - of heart rate variability (HRV), sympathetic-vagal balance, time domains of HRV, corrected QT interval (cQT), and 4 cardiovascular reflexes tests (postural hypotension test, orthostatic, respiratory, and valsalva coefficients - 2 abnormal tests: clinic CAN, 1 abnormal test: incipient CAN, and postural hypotension: advanced CAN). In CGL group 50% had CAN (40% clinic and 10% incipient) and 40% LVH. There was inverse correlation between LVMI and HF (p=0,007), IVS and HF (p=0,013), and positive correlation between IVS and HOMA-IR (p=0,042), and BP drop (p=0,010). These suggest that IR may be involved in the severity of CAN and cardiac autonomic dysfunction in the pathophysiology of cardiovascular complications in these disease. Disclosure V.O. Fernandes: None. C.M.M. Ponte: None. M.C. Gurgel: None. A.D.R. Montenegro: None. L.A.A. Batista: None. C.B.R. Liberato: None. C.B. D9Alva: None. R.M. Montenegro: None.

  • ophthalmologic findings in Congenital Generalized Lipodystrophy a possible marker of metabolic disorders
    2018
    Co-Authors: Virginia Oliveira Fernandes, Ana Paula Dias Rangel Montenegro, Clarisse Mourao Melo Ponte, Livia Aline De Araujo Batista, Lorena Maria Araujo Gomes, Ricardo Evangelista Marrocos De Aragao, Jailton V Silva, M Renan J R Montenegro
    Abstract:

    Background and Aims: Metabolic disorders can present ophthalmologic changes. Congenital Generalized Lipodystrophy (CGL) is characterized by severe metabolic manifestations such as insulin resistance, diabetes and hypertriglyceridemia, but there are few data published about ophthalmologic findings in this condition. The purpose of this study is to describe ocular abnormalities in patients with CGL. Materials and Methods: It was a cross sectional study with 15 patients with CGL of both sex, aged between 2 and 29 years old. We evaluated the symptoms of surface eye disease and visual acuity. In the slit lamp, were evaluated the anterior segment of the eye, the break up time of the tear film with fluorescein and the corneal findings. Under mydriasis, the eye fundus examination was performed. Results: All subjects had dyslipidemia: 15/15 (100%) hypertriglyceridemia; 15/15 (100%) low HDL-c; 4/15 (26,7%) and high levels of LDL-c. Diabetes was presented in 7/15 (46,7%) cases. Symptoms of surface eye disease (blurred vision, pruritus, hyperemia or dry eye sensation) were presented in 9/15 (60%) patients and 8/15 (53%) had refractive errors: 5/8 (62,5%) astigmatism, 2/8 (25%) myopia and 1/8 (13%) myopia and astigmatism. In the slit lamp, 12/15 (80%) presented anterior blepharitis (seborrheic or meibomite), 13/15 (87%) decrease in the break up time of the tear (less than 8 seconds) and 5/15 (33,3%) keratitis. In the fundoscopy, 2/15 (13,3%) presented retinopathy (one with nonproliferative diabetic retinopathy and another presented proliferative diabetic retinopathy). Conclusion: These findings demonstrate high frequency of blepharites and its complications in patients with CGL, even in young subjects without diabetes. These data allow us to speculate that the presence of abnormalities in the anterior segment of the eye may be a marker of metabolic disorders as dyslipidemia and insulin resistance. Disclosure V.O. Fernandes: None. L.M.A. Gomes: None. A.D.R. Montenegro: None. C.M.M. Ponte: None. L.A.A. Batista: None. R.E.M. Aragao: None. J.V. Silva: None. R.M. Montenegro: None.