Multiple endocrine neoplasia type 1 syndrome

Multiple endocrine neoplasia type 1 syndrome (MEN1), also known as Wermer's syndrome, is a rare hereditary disorder characterized by the development of tumors in multiple endocrine glands. The condition is caused by mutations in the MEN1 gene, which is a tumor suppressor gene.

Clinical Features

MEN1 primarily affects the parathyroid glands, pancreas, and pituitary gland. Common clinical features include:

• Hyperparathyroidism: Overactivity of the parathyroid glands leading to hypercalcemia.
• Gastrinoma: Tumors in the pancreas that secrete excessive gastrin, causing peptic ulcers.
• Insulinoma: Tumors in the pancreas that produce excessive insulin, leading to hypoglycemia.
• Pituitary adenoma: Tumors in the pituitary gland that can affect hormone production.

Diagnosis

Diagnosis of MEN1 involves a combination of genetic testing, imaging studies, and blood tests. Genetic testing can identify mutations in the MEN1 gene. Imaging studies such as MRI and CT scan can detect tumors in the endocrine glands. Blood tests are used to measure hormone levels and assess gland function.

Treatment

Treatment for MEN1 focuses on managing symptoms and removing tumors. Surgical removal of tumors is often necessary. Medications may be used to control hormone levels and alleviate symptoms. Regular monitoring and follow-up are essential to manage the condition effectively.

Prognosis

The prognosis for individuals with MEN1 varies depending on the type and location of the tumors. Early detection and treatment are crucial for improving outcomes. Lifelong monitoring is required to manage the condition and prevent complications.

Related Pages

• Multiple endocrine neoplasia type 2
• Hyperparathyroidism
• Gastrinoma
• Insulinoma
• Pituitary adenoma
• Genetic mutation
• Tumor suppressor gene