This information is intended to provide a general overview of Multiple Endocrine Neoplasia (MEN) Syndromes. It is not a substitute for professional medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider for any health concerns or before making any decisions related to your health.
Multiple Endocrine Neoplasia (MEN) syndromes are a rare group of inherited disorders that affect the body's hormone-producing glands, which form the endocrine system. These conditions increase a patient's risk of developing tumours, which can be benign (non-cancerous) or malignant (cancerous), or simply an overgrowth of one or more endocrine glands.
The endocrine system's hormones are vital for controlling numerous body processes, including metabolism, mood, and growth. The major glands most commonly affected by MEN syndromes include the:
Pituitary
Thyroid
Parathyroid
Adrenal
Pancreas
MEN syndromes are hereditary, meaning they are often passed down in families. Approximately half of the children of an affected parent inherit the condition.
Also known as Wermer's syndrome, this rare type is caused by mutations in the MEN1 gene, which is a tumour suppressor gene. Tumours in MEN1 typically develop in multiple endocrine glands, though they are usually benign. However, about half of people with MEN1 will eventually develop cancer.
This type is caused by mutations in the RET gene. Individuals with MEN2 have a very high (95%) chance of developing medullary thyroid cancer. MEN2 is sub-divided into MEN2A, MEN2B, and Familial Medullary Thyroid Carcinoma (FMTC).
The symptoms of MEN syndromes are highly variable, depending on which endocrine glands are affected by tumours or overgrowth.
Usually the earliest sign, causing tiredness, weakness, muscle or bone pain, constipation, kidney stones, or thinning bones. Nearly 100% of people with MEN1 develop this by age 50.
High gastrin levels leading to ulcers, inflammation of the oesophagus, diarrhoea, and abdominal pain (Zollinger-Ellison syndrome).
Headaches, changes in vision, issues with sexual function and fertility, acromegaly (bone enlargement), or Cushing's syndrome.
Being tall and slender, long limbs, and loose joints.
Benign growths around nerves of the mucous membranes, particularly on the lips and tongue, as well as thickening of the eyelids and lips.
Curvature of the spine (scoliosis) and abnormalities of the bones in the feet and thighs.
Enlargement and irritation of the large intestine.
It is important to discuss any new or concerning symptoms with your doctor, as they may also indicate other underlying health problems.
Early and precise diagnosis of MEN syndromes is crucial. The diagnostic process at SSCHRC utilises advanced methods and technology, and typically involves:
Your doctor will discuss your symptoms and family history in detail and perform a thorough physical examination.
As MEN syndromes are inherited, genetic testing of a blood sample is a primary tool to confirm a diagnosis or identify family members at risk. This testing can pinpoint mutations in the MEN1 or RET genes. A genetic counsellor can provide essential guidance for you and your family to make an informed decision about testing.
Blood and urine tests are used to check for abnormal hormone levels, which can validate a suspected diagnosis.
These are performed to locate and determine the size of any tumours. Imaging tests may include:
Treating MEN syndromes requires a personalised approach, considering the type of syndrome, your overall health, and the specific glands affected. At SSCHRC, our specialists possess a high level of experience in managing these rare and complex conditions, offering you the best chance for successful treatment. Treatment options may include:
This is often the primary therapy for MEN. The goal is to surgically remove the affected gland or tumour to manage symptoms. For example, hyperparathyroidism in MEN1 is commonly treated by removing three-and-a-half of the four parathyroid glands, sometimes with a portion of one re-implanted in the forearm. SSCHRC surgeons employ the least-invasive and most effective techniques.
Drugs are frequently used to help balance elevated hormone levels and manage disease-related symptoms. Most hormone-secreting pancreatic tumours in MEN1, except for insulinoma, can be effectively managed with medication.
Our doctors at SSCHRC use modern radiation techniques and skill to target tumours more precisely, delivering the maximum necessary dose while minimising damage to surrounding healthy cells.
For certain slow-progressing or asymptomatic cases, your doctor may suggest careful, active monitoring ("watch and wait") to observe the disease before beginning any interventional treatment.