Symptoms:

• Severe headache
• Heart palpitations
• Rapid heart rate
• Sweating
• Chest pain
• Abdominal pain
• Nervousness
• Irritability
• Loss of weight
• Diarrhea
• Cough
• Cough with blood
• Fatigue
• Back pain
• Increased urine output
• Increased thirst
• Loss of appetite
• Nausea
• Muscular weakness
• Depression
• Personality changes

The symptoms may vary, but are consistent with those of pheochromocytoma, medullary carcinoma of the thyroid, or sometimes hyperparathyroidism.

Signs and tests:

Diagnosis depends on identification of a mutation in the RET gene. This can be done with a blood test.

A physical examination may reveal enlarged cervical (neck) lymph nodes. An examination of the thyroid may reveal one or more thyroid nodules. The patient may have high blood pressure (continual or sporadic), rapid heart rate and fever.

Patients with MEN IIb may have benign tumors (neuromas) of the mucosa, as well as puffy lips and a prominent jaw.

Diagnostic tests are used to evaluate the function of each endocrine gland. The following 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 a nodule
• Thyroid scan showing a cold nodule
• Elevated calcitonin
• Parathyroid biopsy showing a tumor or hyperplasia
• Radioimmune assay of parathyroid hormone showing increased levels
• Increased serum calcium
• Decreased serum phosphorus
• Possibly increased serum alkaline phosphatase
• Imaging of the kidneys or ureters showing calcification or obstruction
• ECG possibly showing abnormalities