Patient: [Patient Name]
MRN: [Medical Record Number]
Date: [Date of Encounter]
Chief Complaint:
New or follow-up for MEN 1
(Specify) Symptoms may be absent in early stages. Symptoms can vary depending on the affected endocrine gland(s). Some examples include:
Parathyroid glands: Hypercalcemia (high blood calcium) – fatigue, weakness, constipation, kidney stones, bone pain
Pituitary gland: Pituitary tumors can cause hormonal imbalances leading to:
Acromegaly (excess growth hormone) – enlarged hands and feet, coarse facial features
Prolactinoma (excess prolactin) – breast discharge, menstrual irregularities, infertility
Cushing’s disease (excess ACTH) – weight gain, easy bruising, stretch marks, high blood pressure
Pancreas: Pancreatic neuroendocrine tumors (NETs) – abdominal pain, diarrhea, flushing (less common)
History of Present Illness:
Onset, duration, and severity of symptoms.
For established MEN 1:
Age at diagnosis and prior testing results.
Progression of symptoms.
Any new symptoms suggestive of involvement of other endocrine glands.
Past Medical History:
Prior surgeries for tumors in parathyroids, pituitary, or pancreas.
History of peptic ulcer disease (more common in MEN 1).
Family History:
Highly suggestive: First-degree relative (parent, sibling, child) with a confirmed MEN 1 diagnosis.
Family history of other endocrine tumors (less specific).
Medications:
List all current medications, including medications for hypercalcemia, hormone replacement therapy, and medications for symptoms related to specific tumors.
Social History:
Not typically relevant for MEN 1.
Physical Exam:
General examination: Assess for signs and symptoms of hypercalcemia, acromegaly, Cushing’s disease, or pancreatic tumors (as mentioned in Chief Complaint).
Neck examination: Palpate for thyroid nodules or enlarged lymph nodes.
Laboratory Tests:
Serum calcium and ionized calcium: Elevated levels suggestive of hyperparathyroidism.
Pituitary hormone testing: Assessed based on suspected hormonal imbalance (prolactin, growth hormone, ACTH).
Urine and serum chromogranin A: Elevated levels may indicate presence of pancreatic NETs.
Genetic testing: Testing for MEN 1 mutations can confirm the diagnosis or identify family members at risk.
Imaging Studies:
Neck ultrasound: May visualize enlarged parathyroid glands.
Head MRI: May reveal pituitary tumors.
CT scan or MRI of the abdomen: May be used to assess for pancreatic tumors.
Assessment:
MEN 1: Based on clinical presentation (symptoms suggestive of involvement of multiple endocrine glands), family history (positive family history), and supportive laboratory and imaging findings.
Genetic testing results: Confirmation of a MEN 1 mutation strengthens the diagnosis.
Differential Diagnoses:
Consider other conditions that can cause symptoms of hormonal imbalances:
Sporadic parathyroid tumors
Pituitary adenomas (not associated with MEN 1)
Cushing’s syndrome (from other causes)
Pancreatic NETs (not associated with MEN 1)
Plan:
Management is directed at controlling hormone excess from affected glands and preventing complications. The specific treatment plan depends on the involved glands and severity of symptoms. Some treatment options include:
Parathyroid glands: Surgery to remove parathyroid tumors (parathyroidectomy) is the definitive treatment for hypercalcemia.
Pituitary gland: Surgery, medications, or radiation therapy may be used to treat pituitary tumors depending on the specific hormone affected.
Pancreas: Surgery, medications, or targeted therapies may be used to treat pancreatic NETs depending on the size, location, and type of tumor.
Medications: Medications may be used to manage symptoms and hormonal imbalances (e.g., calcium-lowering medications, hormone replacement therapy).
Genetic counseling: Recommended for patients with MEN 1 and their at-risk family members for disease awareness and early detection strategies.