Sipple's syndrome

Alternative names

Multiple Endocrine Neoplasia (MEN) II

Definition

Multiple Endocrine Neoplasia II (MEN II) is a hereditary disorder in which patients develop a type of Thyroid cancer accompanied by recurring cancer of the adrenal glands.

One type of this disease (MEN IIa) is also associated with overgrowth (hyperplasia) of the parathyroid gland.

Causes, incidence, and risk factors

The cause of MEN II is genetic - a mutation in a gene called RET. Multiple tumors may appear in the same person, but not necessarily at the same time. The adrenal tumor is a pheochromocytoma and the thyroid tumor is a medullary carcinoma of the thyroid.

The disorder may occur at any age, and affects men and women equally. The main risk factor is a family history of MEN II.

Symptoms

• severe headache
  
• 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
  

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

Signs and tests

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

A physical examination may reveal enlarged cervical Lymph nodes. An examination of the thyroid may reveal a single or multiple thyroid nodules. The patient may have High blood pressure (sustained or episodic), rapid heart rate and elevated temperature.