Health Encyclopedia

Multiple Endocrine Neoplasia (MEN) II

Definition

Multiple endocrine neoplasia II (MEN II) is an uncommon condition passed down through families (inherited) marked by overactivity of the thyroid, adrenal, and parathyroid glands.

Alternative Names

Sipple's syndrome

Causes, incidence, and risk factors

The cause of MEN II is a defect in a gene called RET. This defect causes many tumors to appear in the same person, but not necessarily at the same time. The type of 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
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

Treatment

Surgery is needed to remove both the medullary carcinoma of the thyroid and the pheochromocytoma. Medullary carcinoma of the thyroid must be treated with total removal of the thyroid gland and surrounding lymph nodes. Thyroid hormone replacement therapy is given after surgery.

Family members should be screened for the RET gene mutation.

Expectations (prognosis)

Pheochromocytoma is usually benign (not cancerous), but the accompanying medullary carcinoma of the thyroid is a very aggressive and potentially fatal cancer. The good news is that early diagnosis and surgery can often lead to cure.

Complications

A complication is the metastasis of cancerous cells.

Calling your health care provider

Call your health care provide if you notice symptoms of MEN II.

Prevention

Screening of close relatives of a person with MEN II may lead to early detection.

Review Date:10/25/2006
Reviewed By:Robert Hurd, M.D., Department of Biology, College of Arts and Sciences, Xavier University, Cincinnati, OH. Review provided by VeriMed Healthcare Network.

ADAM Quality A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org). URAC's accreditation program is the first of its kind, requiring compliance with 53 standards of quality and accountability, verified by independent audit. A.D.A.M. is among the first to achieve this important distinction for online health information and services. Learn more about A.D.A.M.'s editorial process. A.D.A.M. is also a founding member of Hi-Ethics (www.hiethics.com) and subscribes to the principles of the Health on the Net Foundation (www.hon.ch).

The Agency for Health Care Administration (Agency) and this website do not claim the information on, or referred to by, this site is error free. This site may include links to websites of other government agencies or private groups. Our Agency and this website do not control such sites and are not responsible for their content. Reference to or links to any other group, product, service, or information does not mean our Agency or this website approves of that group, product, service, or information.

Additionally, while health information provided through this website may be a valuable resource for the public, it is not designed to offer medical advice. Talk with your doctor about medical care questions you may have.