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Imerslund-GrÄsbeck syndrome and celiac disease: A strange but possible association
Abstracts / Digestive and Liver Disease 47S (2015) e237–e276
Conclusions: An increased frequency of autoimmune diseases is well described in CD, but few studies have analysed this immunological phenomena at diagnosis: is autoimmunity positivity only an epiphenomenon at this stage? Follow up studies are needed. http://dx.doi.org/10.1016/j.dld.2015.07.135 P088 IMERSLUND-GRÄSBECK SYNDROME AND CELIAC DISEASE: A STRANGE BUT POSSIBLE ASSOCIATION M.L. Russo 1,∗ , I. Rutigliano 1 , L. Romaniello 2 , C. De Meco 1 , P.P. Maccarone 1 , F. Frascolla 1 , M. Pastore 1 , M.R. D’Altilia 1 , M. Pellegrino 1 , S. Cringoli 2 , A. Bottoni 2 , G. D’Angelo 2 , A. Pacilio 2 , M.P. Falcone 2 , A. Dell’Anna 2 , M. Pettoello Mantovani 2 , M.C. Sacco 1 1
Pediatria, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), Italy 2 Clinica Pediatrica, Università di Foggia, Foggia, Italy
Background: Imerslund-Gräsbeck syndrome or juvenile megaloblastic anemia (IGS, OMIM #261100) is a rare autosomal recessive disorder characterized by vitamin B12 deficiency due to selective vitamin malabsorption. Rare unexplained association with autoimmune condition is described in literature, in particular diabetes mellitus type 1. Case report: A 22-month-old Italian girl had been referred to our pediatric outpatient clinic for irritability and failure to thrive. Laboratory investigations showed: megaloblastic anemia (MCV 105 fL, Hb 10 g/dL) with low vitamin B12 level (16 pg/ml) and anti gastric parietal cells autoantibodies negativity, proteinuria (100 mg/dl) and celiac disease (CD) screening borderline with HLA DQ2 positivity. Esofagogastroduodenoscopy was performed and histological examination confirmed diagnosis of CD: Marsh-Oberhuber type 3b histology. Gluten-free diet was started, but no improvement was recorded in growth and proteinuria. A diagnosis of IGS was considered and she was treated with intramuscular injection of 500 g methylcobalamin daily for 9 days, followed by weekly injections with rapid improvement of symptomatology and growth catch-up. Her haematological parameters were stably normalized after therapy. Blood sample was drawn for IGS mutation analysis (data not available). Conclusions: The presence of megaloblastic anemia in children should be followed by investigation of proteinuria, due to the existence of this rare disorder. The unusual association with CD (one other case reported in literature) should suggest the presence of immune dysregulation in IGS. http://dx.doi.org/10.1016/j.dld.2015.07.136
e269
P089 DIAGNOSIS OF NON-COELIAC GLUTEN SENSITIVITY: FIRST DOUBLE BLIND PLACEBO CONTROLLED CROSS OVER TRIAL IN PEDIATRICS A. Gentile 1,∗ , F. Cristofori 2 , L. Verzillo 3 , F. Arezzo 3 , C. Polloni 4 , V. Giorgio 5 , S. Marcanio 5 , E. Verduci 6 , E. D’Angelo 7 , S. Dell’Atte 8 , R. Francavilla 3 1
Scuola di Specializzazione in Pediatria, Università di Bari, Italy 2 UOC Pediatria, P.O. Centrale Santissima Annunziata, Taranto, Italy 3 Dipartimento Interdisciplinare di Medicina, Università di Bari, Italy 4 UOC Pediatria, Ospedale Santa Maria del Carmine, Rovereto (Tn), Italy 5 UOC Pediatria, Dip. per la Tutela della Salute della Donna, della Vita Nascente, del Bambino e dell’Adolescente, Università Cattolica del Sacro Cuore, Roma, Italy 6 Dipartimento di Pediatria, PO San Paolo Università di Milano, Italy 7 UO Pediatria, PO Santa Maria Incoronata dell’Olmo, Cava de Tirreni (Sa), Italy 8 Mulini Tandoi, Corato (BA), Italy Background: The spectrum of gluten-related disorders includes wheat allergy (WA), coeliac disease (CD) and noncoeliac gluten sensitivity (NCGS). At present there is still a debate on the modalities to perform the diagnosis although the DBPC challenge is currently recommended. Objectives: Aim of the study is to evaluate the real prevalence of NCGS in children presenting with gluten related symptoms (after the exclusion of CD and WA) and to describe its clinical profile. Methods: The present study includes 23 patients (aged 4–18 years; mean age 12,2 years). Per protocol patients who referred an improvement of symptoms of at least 30% after GFD underwent double-blind placebocontrolled cross over trial. While on GFD patients assumed either pure gluten (10 g/daily) and placebo for two week respectively, spaced out by a washout week. We evaluated symptoms with Daily Visual Analogue Scale, IBSSeverity Score, State-Trait Anxiety Inventory for Children, Bristol stool chart, extra-intestinal symptoms questionnaire. Results: 15 children completed the challenge. Four (26%) patients presented symptoms only when eating gluten, eight (54%) patients eating placebo while three (20%) patients improved regardless the diet. Therefore the final diagnosis of NCGS was confirmed in 26% of patients with gluten related symptoms. Abdominal pain and bloating were the most prevalent symptoms (all patients) followed by diarrhea (three patients) and mouth ulcers (one patient). The extra-intestinal symptoms were asthenia (three patients), headache (three patients), arthromyalgia (one patient), foggy mind (one patient). Conclusions: NCGS is a clinical condition that should be suspected also in children but the diagnosis requires a double-blind challenge. http://dx.doi.org/10.1016/j.dld.2015.07.137
Conclusions: An increased frequency of autoimmune diseases is well described in CD, but few studies have analysed this immunological phenomena at diagnosis: is autoimmunity positivity only an epiphenomenon at this stage? Follow up studies are needed. http://dx.doi.org/10.1016/j.dld.2015.07.135 P088 IMERSLUND-GRÄSBECK SYNDROME AND CELIAC DISEASE: A STRANGE BUT POSSIBLE ASSOCIATION M.L. Russo 1,∗ , I. Rutigliano 1 , L. Romaniello 2 , C. De Meco 1 , P.P. Maccarone 1 , F. Frascolla 1 , M. Pastore 1 , M.R. D’Altilia 1 , M. Pellegrino 1 , S. Cringoli 2 , A. Bottoni 2 , G. D’Angelo 2 , A. Pacilio 2 , M.P. Falcone 2 , A. Dell’Anna 2 , M. Pettoello Mantovani 2 , M.C. Sacco 1 1
Pediatria, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), Italy 2 Clinica Pediatrica, Università di Foggia, Foggia, Italy
Background: Imerslund-Gräsbeck syndrome or juvenile megaloblastic anemia (IGS, OMIM #261100) is a rare autosomal recessive disorder characterized by vitamin B12 deficiency due to selective vitamin malabsorption. Rare unexplained association with autoimmune condition is described in literature, in particular diabetes mellitus type 1. Case report: A 22-month-old Italian girl had been referred to our pediatric outpatient clinic for irritability and failure to thrive. Laboratory investigations showed: megaloblastic anemia (MCV 105 fL, Hb 10 g/dL) with low vitamin B12 level (16 pg/ml) and anti gastric parietal cells autoantibodies negativity, proteinuria (100 mg/dl) and celiac disease (CD) screening borderline with HLA DQ2 positivity. Esofagogastroduodenoscopy was performed and histological examination confirmed diagnosis of CD: Marsh-Oberhuber type 3b histology. Gluten-free diet was started, but no improvement was recorded in growth and proteinuria. A diagnosis of IGS was considered and she was treated with intramuscular injection of 500 g methylcobalamin daily for 9 days, followed by weekly injections with rapid improvement of symptomatology and growth catch-up. Her haematological parameters were stably normalized after therapy. Blood sample was drawn for IGS mutation analysis (data not available). Conclusions: The presence of megaloblastic anemia in children should be followed by investigation of proteinuria, due to the existence of this rare disorder. The unusual association with CD (one other case reported in literature) should suggest the presence of immune dysregulation in IGS. http://dx.doi.org/10.1016/j.dld.2015.07.136
e269
P089 DIAGNOSIS OF NON-COELIAC GLUTEN SENSITIVITY: FIRST DOUBLE BLIND PLACEBO CONTROLLED CROSS OVER TRIAL IN PEDIATRICS A. Gentile 1,∗ , F. Cristofori 2 , L. Verzillo 3 , F. Arezzo 3 , C. Polloni 4 , V. Giorgio 5 , S. Marcanio 5 , E. Verduci 6 , E. D’Angelo 7 , S. Dell’Atte 8 , R. Francavilla 3 1
Scuola di Specializzazione in Pediatria, Università di Bari, Italy 2 UOC Pediatria, P.O. Centrale Santissima Annunziata, Taranto, Italy 3 Dipartimento Interdisciplinare di Medicina, Università di Bari, Italy 4 UOC Pediatria, Ospedale Santa Maria del Carmine, Rovereto (Tn), Italy 5 UOC Pediatria, Dip. per la Tutela della Salute della Donna, della Vita Nascente, del Bambino e dell’Adolescente, Università Cattolica del Sacro Cuore, Roma, Italy 6 Dipartimento di Pediatria, PO San Paolo Università di Milano, Italy 7 UO Pediatria, PO Santa Maria Incoronata dell’Olmo, Cava de Tirreni (Sa), Italy 8 Mulini Tandoi, Corato (BA), Italy Background: The spectrum of gluten-related disorders includes wheat allergy (WA), coeliac disease (CD) and noncoeliac gluten sensitivity (NCGS). At present there is still a debate on the modalities to perform the diagnosis although the DBPC challenge is currently recommended. Objectives: Aim of the study is to evaluate the real prevalence of NCGS in children presenting with gluten related symptoms (after the exclusion of CD and WA) and to describe its clinical profile. Methods: The present study includes 23 patients (aged 4–18 years; mean age 12,2 years). Per protocol patients who referred an improvement of symptoms of at least 30% after GFD underwent double-blind placebocontrolled cross over trial. While on GFD patients assumed either pure gluten (10 g/daily) and placebo for two week respectively, spaced out by a washout week. We evaluated symptoms with Daily Visual Analogue Scale, IBSSeverity Score, State-Trait Anxiety Inventory for Children, Bristol stool chart, extra-intestinal symptoms questionnaire. Results: 15 children completed the challenge. Four (26%) patients presented symptoms only when eating gluten, eight (54%) patients eating placebo while three (20%) patients improved regardless the diet. Therefore the final diagnosis of NCGS was confirmed in 26% of patients with gluten related symptoms. Abdominal pain and bloating were the most prevalent symptoms (all patients) followed by diarrhea (three patients) and mouth ulcers (one patient). The extra-intestinal symptoms were asthenia (three patients), headache (three patients), arthromyalgia (one patient), foggy mind (one patient). Conclusions: NCGS is a clinical condition that should be suspected also in children but the diagnosis requires a double-blind challenge. http://dx.doi.org/10.1016/j.dld.2015.07.137