Multiple Endocrine Neoplasia (MEN) II

Alternative names:

Sipple's syndrome

Symptoms:

• severe headache
• palpitations
• rapid heart rate
• sweating
• chest pain
• abdominal pain
• nervousness
• irritability
• increased appetite
• loss of weight
• diarrhea
• cough
• cough with blood
• fatigue
• back pain
• joint pain
• fractures of long bones
• decreased height
• increased urine output
• increased thirst
• loss of appetite
• nausea
• muscular weakness
• depression
• personality changes
• stupor and possibly coma
• itching of the skin
• cataract

Note: The symptoms may vary, but are consistent with those present with pheochromocytoma, medullary carcinoma of the thyroid, and sometimes hyperparathyroidism.

Signs and tests:

Diagnostic tests are used to evaluate the function of each endocrine gland.

A physical examination reveals enlarged cervical lymph nodes. An examination of the thyroid reveals a single or multiple thyroid nodules. Vital signs (temperature, pulse, rate of breathing, blood pressure) reveal high blood pressure, which may be sustained or episodic, rapid heart rate and elevated temperature.

These tests help confirm the diagnosis:

• adrenal biopsy showing pheochromocytoma
• MIBG scintiscan showing tumor
• MRI of abdomen showing adrenal mass
• Abdominal CT scan showing mass
• elevated urine metanephrine
• elevated urine catecholamines
• thyroid biopsy showing medullary carcinoma cells
• ultrasound of the thyroid revealing nodule
• thyroid scan showing cold nodule
• elevated calcitonin
• parathyroid biopsy showing tumor or hyperplasia
• radioimmune assay of parathyroid hormone showing increased level
• increased serum calcium
• possibly increased serum chloride
• decreased serum phosphorus
• possibly increased serum alkaline phosphatase
• bone X-ray showing bone reabsorption or fractures
• imaging of the kidneys or ureters showing calcification or obstruction
• ECG possibly showing abnormalities