Introduction: Insulinomatosis is a rare pancreatic disease characterized by an adult-onset condition of recurrent hyperinsulinemic hypoglycemia caused by multiple insulin-secreting neuroendocrine tumors.
Aim(s): Only recently Iacovazzo et al. reported 2 unrelated families presenting autosomal dominant (AD) insulinomatosis and diabetes mellitus/impaired glucose tolerance (DM/IGT) linked to a missense mutation in the MAFA gene, segregating with both clinical phenotypes. Here we report another family with a novel and so far unknown MAFA-missense mutation, causing familial insulinomatosis.
Materials and methods: Two sisters presented at our center for recurrent hyperinsulinemic hypoglycemia and both were diagnosed with insulinomatosis. Given the rarity of the disease, a genetic condition was suspected. Next generation sequencing analysis was performed in both patients and in 10 healthy controls.
Conference: 17th Annual ENETS Conference 2020 (2020)
Category: Epidemiology/Natural history/Prognosis - Registries, nationwide and regional surveys
Presenting Author: PD. Dr. Christian Fottner
To read results and conclusion, please login ...
Further abstracts you may be interested in
Introduction: The control of hypoglycemic hyperinsulinemic syndrome from malignant insulinoma is challenging because it is often refractory to diazoxide and somatostatin analogues (SA). Everolimus can have side effects that can limit its use. Pasireotide, a multi-receptor-targeted SA with a high binding affinity to SSTR1 and SSTR5, exhibits a strong inhibitory effect of insulin secretion.
Conference: 15th Annual ENETS conference 2018 (2018)
Category: Case reports
Presenting Author: MD Maria Vittoria Davì
Introduction: Biochemical diagnosis of endogenous hyperinsulinemic hypoglycemia is straightforward. Surgical removal of an insulinoma is hampered by difficulties to localize it using conventional radiological procedures. In vitro data suggest that human insulinoma cells exhibit a high density of GLP-1R. 111In-exendin-4 is an 111In labeled GLP-1R agonist that binds with high affinity to GLP-1R and may be helpful in localizing insulinomas.
Conference: 9th Annual ENETS Conference (2012)
Presenting Author: MD, PhD Emanuel Christ
Introduction: A 56-year-old woman was submitted to caudal pancreatectomy for an insulin-secreting adenoma suspected by MRI and fast test positivity at 38th hour. Intraoperative US excluded other pancreatic lesions but tissue analysis described a 8mm neuroendocrine well-differentiated tumor and the surrounding pancreatic tissue exhibited characteristics of nesidioblastosis. Five months after surgery, she still reported episodes of hypoglycemia requiring diazoxide therapy and she was admitted to our department.
Conference: 11th Annual ENETS Conference 2014 (2014)
Category: Clinical cases/reports
Presenting Author: MD Eugenio De Carlo
Introduction: SPECT/CT imaging with GLP1-R specific radiotracers like 111In-DOTA-exendin-4 have already proved to be a useful tool for the preoperative localisation of insulinomas. PET/CT has several advantages over SPECT/CT: lower radiation exposure, less time consumption and higher spatial resolution.
Conference: 12th Annual ENETS Conference 2015 (2015)
Category: Imaging (radiology, nuclear medicine, endoscopy)
Presenting Author: Dr. Christof Rottenburger
Introduction: Nesidioblastosis is an uncommon cause of persistent hyperinsulinemic hypoglycemia (PHH) in adults. Although it is well-described in infants, the pathophysiology in adults is poorly understood.
Conference: 8th Annual ENETS Conference (2011)
Presenting Author: Prof.Dr. Zafer N Canturk