Mahvash disease

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
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W8MD medical weight loss NYC and sleep center NYC

Mahvash disease
File:Mahvash disease.tif Mahvash disease
Synonyms	Pancreatic neuroendocrine tumor with hyperinsulinism
Pronounce	N/A
Specialty	Endocrinology, Oncology
Symptoms	Hypoglycemia, Confusion, Seizures, Sweating
Complications	N/A
Onset	Typically in adulthood
Duration	Chronic
Types	N/A
Causes	Genetic mutation
Risks	Family history of pancreatic neuroendocrine tumors
Diagnosis	Blood test, Imaging studies, Biopsy
Differential diagnosis	Insulinoma, Nesidioblastosis
Prevention	N/A
Treatment	Surgery, Medication
Medication	Diazoxide, Octreotide
Prognosis	Variable, depending on tumor size and spread
Frequency	Rare
Deaths	N/A

Mahvash disease is a rare genetic disorder characterized by pancreatic neuroendocrine tumors (PNETs) and hyperinsulinemia. It is named after the researcher who first described the condition. The disease is caused by mutations in the glucagon receptor (GCGR) gene, which leads to the development of tumors in the pancreas and an overproduction of insulin.

Presentation

Patients with Mahvash disease typically present with symptoms related to hypoglycemia, such as dizziness, sweating, confusion, and seizures. These symptoms are due to the excessive production of insulin by the pancreatic tumors. The tumors are usually benign but can cause significant clinical problems due to their hormonal activity.

Genetics

Mahvash disease is inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the mutated gene, one from each parent, to develop the disease. The GCGR gene is responsible for encoding the glucagon receptor, which plays a crucial role in glucose metabolism. Mutations in this gene disrupt normal glucose homeostasis, leading to the clinical manifestations of the disease.

Diagnosis

The diagnosis of Mahvash disease is based on clinical presentation, biochemical tests showing hyperinsulinemia, and genetic testing confirming mutations in the GCGR gene. Imaging studies such as CT scan or MRI may be used to identify pancreatic tumors.

Treatment

The primary treatment for Mahvash disease involves managing hypoglycemia and may include dietary modifications, medications to reduce insulin secretion, and surgical removal of pancreatic tumors. In some cases, pancreatectomy may be necessary to control symptoms.

Prognosis

The prognosis for individuals with Mahvash disease varies depending on the severity of the condition and the effectiveness of treatment. With appropriate management, many patients can lead relatively normal lives, although they may require ongoing medical care to monitor and manage their condition.

See also

• Pancreatic neuroendocrine tumor
• Hyperinsulinemia
• Hypoglycemia
• Glucagon receptor
• Genetic disorder
• Autosomal recessive

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