BSPED2018 Oral Communications Oral Communications 4 (8 abstracts)
Clinical outcomes of focal congenital hyperinsulinism – a UK perspective
Antonia Dastamani 1 , Daphne Yau 2 , Clare Gilbert 1 , Kate Morgan 3 , Elaine O’Shea 4 , Helen Pimlott 4 , Paolo DeCoppi 5 , Ross Craigie 6 , Sarah Flanagan 7 , Jayne Houghton 7 , Senthil Senniappan 8 , Mohammed Didi 8 , Indi Banerjee 4 & Pratik Shah 9,
1Endocrinology Department, Great Ormond Street Hospital for Children, London, UK; 2Department of Paediatric Endocrinology, Royal Manchester Children’s Hospital, Manchester, UK; 3Endocrinology Department, Great Ormond Street Hospital for Children, London, UK; 4Department of Paediatric Endocrinology, Royal Manchester Children’s Hospital, Manchester, UK; 5Department of Surgery, Great Ormond Street Hospital for Children, London, UK; 6Department of Paediatric Surgery, Royal Manchester Children’s Hospital, Manchester, UK; 7Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, Exeter, UK; 8Department of Paediatric Endocrinology, Alder Hey Children’s Hospital NHS Trust, Liverpool, UK; 9Great Ormond Street Hospital, London, UK; 10GGM Programme, GEHD section, Institute of Child Health, University College London, London, UK.
Background: The focal type of Congenital Hyperinsulinism (CHI) is characterized by a cluster of abnormal insulin over-secreting β-cells within a restricted area of the pancreas. Early identification and intervention of the focal lesion is critical in CHI management, preventing both acute and chronic complications.
Objective: The purpose of this study is to review outcomes of treatment response in focal CHI.
Design: Retrospective review of patients diagnosed with focal type of CHI from 2003–2018 at 2 regional specialist centres.
Results: Data from 52 individuals with focal CHI were analysed; 37 were male and 15 female. Paternally-inherited heterozygous mutations in K-ATP channel genes (ABCC8, KCNJ11) were identified in 48 patients (42 ABCC8; 6 KCNJ11). Three patients had negative CHI genetic testing, while one of them showed somatic loss of heterozygosity in the resected pancreatic tissue. The Fluorine-18 L-3,4-dihydroxyphenylalanine positron emission tomography computerized tomography (18F-DOPA-PET/CT scan) confirmed a focal lesion in 48 patients, with the pancreatic head being the most prevalent lesion location. In the remaining 4 patients, imaging was inconclusive; in these patients the diagnosis was established by frozen section histopathology at surgery. Prior to surgery the majority of the patients (n=49) were unresponsive to Diazoxide treatment, with 19 responding to Octreotide, 3 partially responsive to Sirolimus and 1 to Lanreotide. Ten patients were treated conservatively without surgery; at last review 2 patients had stopped medications, while 8 were still on medications but able to tolerate age-appropriate fasting. Forty-five patients underwent pancreatic surgery; 35 had lesionectomy, 7 had sub-total pancreatectomy and 3 had biopsies. Post-surgery, CHI resolved in 36 patients, while 6 required medication (Diazoxide or Octreotide) and four stopped mediations 2–10 years post-surgery. Among those whose underwent sub-total pancreatectomy, 2 patients developed pancreatic insufficiency and one developed diabetes 10 years post-operatively.
Conclusion: Surgical excision of the focal lesion remains the treatment of choice for focal CHI. However, our data support the possible implementation of medical therapy in select cases.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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