Irene Degrassi1, Maesha Deheragoda2, David Creegen3, Helen Mundy4, Ahlam Mustafa5, Roshni Vara6, Nedim Hadzic7. 1. Paediatric Service for Hepatology, Gastroenterology and Nutrition, King's College Hospital, Denmark Hill, SE5 9RS, London UK; Pediatric Intermediate Care Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via della Commenda 9, 20122 Milan Italy. Electronic address: irene.degrassi@hotmail.it. 2. Paediatric Service for Hepatology, Gastroenterology and Nutrition, King's College Hospital, Denmark Hill, SE5 9RS, London UK. Electronic address: maesha.deheragoda@nhs.net. 3. Metabolic Service, Evelina London Children's Hospital, Westminster Bridge Road, SE1 7EH, London UK. Electronic address: david.creegen@gstt.nhs.uk. 4. Metabolic Service, Evelina London Children's Hospital, Westminster Bridge Road, SE1 7EH, London UK. Electronic address: helen.mundy@gstt.nhs.uk. 5. Paediatric Service for Hepatology, Gastroenterology and Nutrition, King's College Hospital, Denmark Hill, SE5 9RS, London UK. Electronic address: drahlammustafa@gmail.com. 6. Metabolic Service, Evelina London Children's Hospital, Westminster Bridge Road, SE1 7EH, London UK. Electronic address: roshni.vara@gstt.nhs.uk. 7. Paediatric Service for Hepatology, Gastroenterology and Nutrition, King's College Hospital, Denmark Hill, SE5 9RS, London UK. Electronic address: dino.hadzic@nhs.net.
Abstract
BACKGROUND: Glycogen storage diseases (GSD) type VI and IX are caused by liver phosphorylase system deficiencies and the two types are clinically indistinguishable. AIM: As the role of liver biopsy is increasingly questioned, we aim to assess its current value in clinical practice. METHODS: We retrospectively reviewed children with diagnosis of GSD VI and IX at a paediatric liver centre between 2001 and 2018. Clinical features, molecular analysis and imaging were reviewed. Liver histology was reassessed by a single histopatologist. RESULTS: Twenty-two cases were identified (9 type VI, 9 IXa, 1 IXb and 3 IXc). Features at presentation were hepatomegaly (95%), deranged AST (81%), short stature (50%) and failure to thrive (4%). Liver biopsy was performed in 19 patients. Fibrosis varied in GSD IXa with METAVIR score between F1-F3 and ISHAK score of F2-F5. METAVIR score was F2-F3 in GSD VI and F3-F4 in GSD IXc. Hepatocyte glycogenation, mild steatosis, lobular inflammatory activity and periportal copper binding protein staining were also demonstrated. CONCLUSIONS: Although GSD VI and IX are considered clinically mild, chronic histological changes of varying severity could be seen in all liver biopsies. Histopathological assessment of the liver involvement is superior to biochemical parameters, but definitive classification requires a mutational analysis.
BACKGROUND: Glycogen storage diseases (GSD) type VI and IX are caused by liver phosphorylase system deficiencies and the two types are clinically indistinguishable. AIM: As the role of liver biopsy is increasingly questioned, we aim to assess its current value in clinical practice. METHODS: We retrospectively reviewed children with diagnosis of GSD VI and IX at a paediatric liver centre between 2001 and 2018. Clinical features, molecular analysis and imaging were reviewed. Liver histology was reassessed by a single histopatologist. RESULTS: Twenty-two cases were identified (9 type VI, 9 IXa, 1 IXb and 3 IXc). Features at presentation were hepatomegaly (95%), deranged AST (81%), short stature (50%) and failure to thrive (4%). Liver biopsy was performed in 19 patients. Fibrosis varied in GSD IXa with METAVIR score between F1-F3 and ISHAK score of F2-F5. METAVIR score was F2-F3 in GSD VI and F3-F4 in GSD IXc. Hepatocyte glycogenation, mild steatosis, lobular inflammatory activity and periportal copper binding protein staining were also demonstrated. CONCLUSIONS: Although GSD VI and IX are considered clinically mild, chronic histological changes of varying severity could be seen in all liver biopsies. Histopathological assessment of the liver involvement is superior to biochemical parameters, but definitive classification requires a mutational analysis.