Hyperinsulinism – Causes, Symptoms and Treatment
Hyperinsulinism is a condition in which the pancreas produces excessive amounts of insulin, leading to dangerously low blood sugar levels. Causes range from genetic disorders to insulin-producing tumors.
Wissenswertes über "Hyperinsulinism"
Hyperinsulinism is a condition in which the pancreas produces excessive amounts of insulin, leading to dangerously low blood sugar levels. Causes range from genetic disorders to insulin-producing tumors.
What is Hyperinsulinism?
Hyperinsulinism is a metabolic disorder characterized by abnormally high levels of insulin in the blood, which leads to persistently low blood glucose levels -- a condition known as hypoglycemia. It can affect newborns, children, and adults, and ranges from mild to life-threatening in severity.
Causes
Hyperinsulinism can be classified into congenital (inherited) and acquired forms:
Congenital Hyperinsulinism
- Genetic mutations affecting the regulation of insulin secretion in pancreatic beta cells (e.g., mutations in the KATP channel genes ABCC8 and KCNJ11)
- Focal or diffuse overactivity of insulin-producing pancreatic tissue
Acquired Hyperinsulinism
- Insulinoma: A usually benign, insulin-secreting tumor of the pancreas
- Nesidioblastosis: Diffuse proliferation of insulin-producing cells
- Post-bariatric hyperinsulinism: Non-insulinoma hypoglycemia occurring after gastric bypass surgery
- Certain medications, such as sulfonylureas
- Insulin autoimmune syndrome (antibodies targeting endogenous insulin)
Symptoms
Symptoms of hyperinsulinism result directly from low blood sugar (hypoglycemia) and can vary in severity:
- Trembling, sweating, and palpitations
- Intense hunger and nausea
- Difficulty concentrating, confusion, and dizziness
- Headaches
- In severe cases: seizures, loss of consciousness, and coma
In newborns and infants, the condition may present as poor feeding, lethargy, trembling, and seizures. The developing brain is especially vulnerable to glucose deprivation, making early diagnosis critical.
Diagnosis
Diagnosing hyperinsulinism involves several steps:
- Laboratory tests: Measurement of blood glucose, insulin, C-peptide, and proinsulin during a hypoglycemic episode (e.g., supervised fasting test or 72-hour fast)
- Imaging studies: CT scan, MRI, or selective arterial calcium stimulation to localize an insulinoma
- PET-CT with 18F-DOPA to differentiate focal from diffuse forms in congenital hyperinsulinism
- Genetic testing when a congenital form is suspected
Treatment
Treatment depends on the underlying cause of hyperinsulinism:
Medical Treatment
- Diazoxide: Inhibits insulin release from beta cells and is the first-line treatment for congenital hyperinsulinism
- Somatostatin analogues (e.g., octreotide): Suppress insulin secretion
- Glucagon: Used for acute management of severe hypoglycemia
- mTOR inhibitors (e.g., everolimus): For cases refractory to conventional medical therapy
Surgical Treatment
- For insulinoma, surgical removal of the tumor (enucleation or pancreatic resection) is the treatment of choice and offers excellent cure rates
- Focal congenital hyperinsulinism can often be cured by partial pancreatectomy
- Diffuse congenital hyperinsulinism may require near-total pancreatectomy in severe cases
Dietary Management
- Frequent carbohydrate-rich meals to prevent hypoglycemic episodes
- In severe infant cases: continuous glucose infusion via nasogastric tube
References
- Arnoux J-B et al. - Congenital hyperinsulinism: current trends in diagnosis and therapy. Orphanet Journal of Rare Diseases, 2011.
- Cryer PE et al. - Hypoglycemia in Diabetes. Diabetes Care, American Diabetes Association, 2023.
- Stanley CA - Perspective on the Genetics and Diagnosis of Congenital Hyperinsulinism Disorders. Journal of Clinical Endocrinology and Metabolism, 2016.
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Related search terms: Hyperinsulinism + Hyperinsulinaemia + Hyperinsulinemia