USMLE/COMLEX - Step 2 - Multiple Endocrine Neoplasia Type 1

USMLE/COMLEX - Step 2 - Multiple Endocrine Neoplasia 1 (MEN 1)
Pathophysiology
Multiple Endocrine Neoplasia type 1 (MEN1) is caused by a mutation in the MEN1 gene, which leads to the development of tumors in multiple endocrine glands due to the loss of normal tumor suppressor gene function. The most common tumors associated with MEN1 are parathyroid adenomas and pancreatic neuroendocrine tumors.
Symptoms
Abdominal pain, diarrhea, and ulcers Hypoglycemia Hyperglycemia Headache, vision problems, and hormone imbalances Fatigue, weakness, and weight loss Coughing, wheezing, and chest pain
Findings
Hypercalcemia Hypoglycemia, diarrhea, and flushing Hormonal imbalances
Diagnosis
Genetic testing Blood tests measuring calcium and PTH levels MRI CT scan Endocrine function tests Biopsy
Treatment
The treatment for Multiple Endocrine Neoplasia type 1 (MEN1) depends on the specific tumors present and their severity. Some common treatments include: 1. Surgery: This is the primary treatment for parathyroid adenomas and may also be necessary for other tumors. 2. Medical therapy: Drugs such as somatostatin analogs and dopamine agonists can control hormone levels in patients with pancreatic neuroendocrine tumors and pituitary adenomas. 3. Radiation therapy: This may be used to shrink tumors that cannot be surgically removed. 4. Chemotherapy: This may be used in patients with advanced pancreatic neuroendocrine tumors. 5. Surveillance: Regular monitoring is necessary to detect any new tumors that may develop.