GCGR-related hyperglucagonemia

GCGR-related hyperglucagonemia is an extremely rare genetic condition caused by mutations in the GCGR gene, which provides instructions for making the glucagon receptor. Glucagon is a hormone produced by the pancreas that normally raises blood sugar levels. When the glucagon receptor does not work properly, the body cannot respond to glucagon as it should. This leads to very high levels of glucagon in the blood, a condition called hyperglucagonemia. The pancreas keeps making more and more glucagon because the normal feedback loop is broken. This condition can also be referred to as Mahvash disease or glucagon receptor deficiency. People with this disease may develop pancreatic alpha-cell hyperplasia, meaning the glucagon-producing cells in the pancreas grow excessively and can form tumors called pancreatic neuroendocrine tumors (PNETs). Symptoms can include abdominal discomfort, nausea, and sometimes low blood sugar episodes. Some patients may have no symptoms for years and are only diagnosed when imaging reveals pancreatic masses. The treatment landscape is still evolving because the disease is so rare. Management typically focuses on monitoring pancreatic growths and addressing symptoms. Surgery may be considered if tumors develop. There is no specific cure, and treatment is largely supportive and individualized based on each patient's situation.

Bring these to your next appointment

• Q1.How often should imaging be done to monitor my pancreas?,What are the signs that a pancreatic growth might need to be removed?,Should my family members be tested for mutations in the GCGR gene?,What should I do if I experience symptoms of low blood sugar?,Are there any dietary changes that could help manage my condition?,Is there any ongoing research or clinical trials for this disease?,What specialists should be part of my care team?

Common questions about GCGR-related hyperglucagonemia