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Multiple Endocrine Neoplasia (MEN)- a rare syndrome

Medikoe Health Expert

Medikoe Health Expert

  Koramangala, bengaluru, karnataka, india, Bengaluru     Feb 9, 2017

   6 min     

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Overview

Multiple endocrine neoplasia syndromes are uncommon, inherited disorders in which certain endocrine glands exhibit cancerous or noncancerous tumours (called as endocrine tumours). They also may grow extravagantly without forming tumours, affecting the network of the body's hormone-producing organs called the endocrine system.

Multiple endocrine neoplasia or MEN can develop in children or people as aged as 70. The neoplasms (tumours) and the abnormally large glands usually produce excess hormones. Although tumours or strange growths may appear in more than one organ simultaneously, changes customarily occur over time. The symptoms of such syndromes also vary depending on which glands are impacted. 

Causes of Multiple Endocrine Neoplasia

Inherited genetic variations can affect a body with multiple endocrine neoplasia syndromes. A particular gene responsible for type 1 attack has been identified. Anomalies in a different gene have been detected in people with type 2A and type 2B syndrome.

Types of Multiple Endocrine Neoplasia

They are of three kinds Type 1, Type 2A and Type 2B. As per studies, a single gene is responsible for type 1 disease whereas abnormalities in a different gene have been identified in people with types 2A and 2B disease.

1. Endocrine Neoplasia Type 1

  • Here, the tumours develop in two or more of the following glands:

  • The pituitary gland

  • The pancreas

  • The thyroid gland

  • The parathyroid

  • The adrenal glands

A lot of the people with multiple endocrine neoplasias have type 1 disease of the parathyroid glands. Most of the neoplasms or tumours are harmless or noncancerous, but they make the glands to release too many parathyroid hormones (primary hyperparathyroidism). The additional parathyroid hormone growth usually increases the calcium levels in the blood, sometimes beginning kidney stones. 

About 30-80% of people with type 1 disease also reveal tumours of the hormone-producing cells (or islet cells) of the pancreas. These type of tumours are also known as pancreatic neuroendocrine tumours

More than half of these islet cell tumours exhibit redundant gastrin, which incites the abdomen to overproduce acid. Such gastrin producing tumours generally end with peptic ulcers that often bleed, create holes (perforate), and leak contents into the abdomen, or block the stomach. 

2. Endocrine Neoplasia Type 2A

Here, the tumours develop in two or more of the following glands:

  • The thyroid gland

  • The adrenal glands

  • The parathyroid glands

People with type 2A disease usually shows symptoms of an itchy skin condition called cutaneous lichen amyloidosis. In 2-5% of people who have type 2A disease suffers from Hirschsprung disease. 

Almost all of the people with type 2A tumours exhibits medullary thyroid cancer. Nearly 40-50% of people develop adrenal glands tumours, also known as pheochromocytomas. These neoplasms or tumours usually inflate blood pressure due to the epinephrine and other components they produce. The increased blood pressure may be interrupted or fixed and is often very critical. 

Type 2A diseased people may have high levels of parathyroid hormones. The overactive parathyroid hormones can cause raised levels of calcium in the blood.  

3. Endocrine Neoplasia Type 2B

They are the cancers of the:

  • Medullary thyroid cancer

  • Growths around nerves (neuromas)

  • Pheochromocytomas

More of the people who comes up with type 2B disease have no family medical records of it. In such people, the condition is the outcome of a new gene mistake called gene mutation. 

The medullary thyroid cancer occurring in type 2B disease conduces to emerge at an early age and has been found even in infants of three months of age. The medullary thyroid tumours develop faster and expand more quickly than those in type 2A disease. 

Most of the type 2B diseased people catch neuromas in their mucous membranes. The neuromas arise as glistening bulges around the lips, tongue, and lining of the mouth. Neuromas may also grow on the eyelids and glistening eye surfaces, involving the conjunctiva and cornea. The lips and eyelids may swell, and the lips may become inside out (turn everted). 

Digestive tract anomalies cause diarrhoea. Usually, the colon exhibits large and dilated loops called megacolon. These irregularities apparently appear from neuromas developing on the intestinal nerves. 

Type 2B diseased people often receive spinal deformities, especially the spine curvature. They may also have malformations of the bones of the feet, thighs, and skull with long limbs and loose joints. Some of these deformities are same as what people endure in Marfan syndrome. 

Diagnosis of Multiple Endocrine Neoplasia

  • Genetic tests

  • Hormone levels tests in blood and urine

  • Imaging tests, in some cases 

As most of the cases of MEN are from genetic reasons, tests are available to discover the genetic anomaly existing in each of the multiple endocrine neoplasia syndromes. Doctors habitually do these genetic tests when they know any family members of such patients are already diagnosed with one of the types or who have one of the neoplasms typical of MENs or multiple endocrine neoplasias. 

The screening of family members, sometimes even before delivery, is especially necessary as nearly half of the children inherit the disease from their parents who have multiple endocrine neoplasia syndrome. 

Blood and urine tests are performed to discover raised hormone levels. 

Imaging tests, such as ultrasonography, magnetic resonance imaging (MRI), computed tomography (CT), and positron emission tomography (PET), may also be required to help the specialists determine areas of the tumours. 

Treatment of Multiple Endocrine Neoplasia

No particular cure is associated with any of the multiple endocrine neoplasia syndromes. The surgeons treat the mutations in each gland separately. 

The surgeons may use any or all of the below procedures to control the ailment.

  • Tumour removal

  • Often removal of the thyroid gland

  • Medication/Drugs

A tumour can be operated by eliminating it surgically when attainable. But, the small pancreatic islet cell tumours are not excluded immediately due to their size; hence, are observed to see whether they are expanding and then treated if they grow large enough to cause dilemmas.  

Before the tumour removal or if that is not achievable, doctors give drugs/medications to fix the hormone imbalance caused by overactive glands. Usually, the excessively large and overactive gland that is found without a tumour is treated with drugs to neutralise the effects. 

The medullary thyroid cancer is a fatal condition if left untreated. If genetic testing has reported confirmation of multiple endocrine neoplasia type 2A or 2B, the surgeons will most likely prescribe deterrent surgical elimination of the thyroid gland. 

This preventive operation is performed even if the analysis of medullary thyroid cancer has not been done before the surgery. This militant variety of thyroid cancer cannot be cured with radioactive iodine, unlike other thyroid cancers. Once the thyroid is excluded, patients have to take thyroid hormone for the rest of their entire lives.  

If thyroid cancer has expanded, other methods of treatments (like chemotherapy or other drugs) can also help the patient live longer. Pheochromocytomas must be eliminated surgically after the blood pressure of the patient has been controlled with relevant drugs

As the tumours may not all occur at the same time, people suffering from MENs or multiple endocrine neoplasias may become worried and anxious about when the other tumour will grow or whether they will grow or not. Such people may require counselling to come out with this stress.

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Tags:  cancer,tumors, medullary thyroid cancer, type 2A, type 2B, itchy skin, bumped lips and eyelids

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