Multiple endocrine neoplasia type 1 (MEN 1)
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Multiple Endocrine Neoplasia, type 1 (MEN 1) or Wermer’s syndrome is a rare medical condition characterized by the growth of tumors in the various endocrine glands, parts of small intestine, and stomach. These endocrine glands, such as the parathyroid, pancreas, and pituitary, are affected by the growth of tumors, which in turn produce an excessive amount of hormones, potentially leading to health issues in individuals with MEN 1. It is worth noting that the tumors associated with MEN 1 are mostly benign, meaning they are noncancerous in nature.
The excess hormones produced as a result of MEN 1 can lead to a wide range of signs and symptoms. These can include exhaustion, bone pain, fractures, kidney stones, and stomach or intestine ulcers. MEN 1 cannot be cured at present. However, routine examinations can spot issues, and medical professionals can offer the appropriate care.
MEN 1 is an inherited condition, meaning individuals who carry the gene mutation have the potential to pass it on to their children. There is a 50% likelihood for each child to inherit the disorder.
Causes
A mutation in the MEN1 gene is the most common genetic cause of MEN1, an inherited illness. The gene gives instructions for making the menin protein, which is known to prevent cells from growing and dividing too quickly.
MEN1 is an autosomal dominant condition. This indicates that only one parent must carry the problematic gene for a child to be affected by the condition. Each child has a 1 in 2 (50%) chance of getting the condition if one parent carries the MEN1 gene. One in ten times, the mutation arises on its own and is not passed down from either parent. This is a haphazard process that can happen to anyone.
The same mutation is present in every member of the family that has the MEN1 syndrome. Scientists have discovered hundreds of potential MEN1 gene variants that can cause the condition by examining several families with MEN1. Even if you don’t have any symptoms, you are still regarded as a MEN1 carrier if you have any of these mutations.
It is crucial to determine if you are a carrier of MEN1, even if you do not currently experience any symptoms. Individuals who carry the gene mutation are highly likely to develop certain tumors cancers associated with MEN1 at some point in their lifetime. Without undergoing a comprehensive evaluation, there is a possibility that tumors may be developing unnoticed. Additionally, being unaware of your carrier status could result in the transmission of the condition to your child. Therefore, early detection and genetic testing are essential to identify MEN1 carriers and take appropriate preventive measures.
If genetic testing confirms the absence of the MEN1 mutation, and there is a known MEN1 mutation in your family, it indicates that you do not have MEN1 syndrome. In this case, you will not pass the condition on to your children, and the likelihood of developing tumors associated with MEN1 is low. It is reassuring to know that you are not at risk for MEN1-related health concerns based on the genetic testing results and family history.
Risk factors
Your risk rises if the illness runs in your family. You have a 50% chance of acquiring the MEN1 defective gene if one of your parents carries the gene.
Both men and women are impacted by MEN1. Although the illness can affect persons of various ages, the earliest symptoms are frequently seen in adults in their early 20s and are frequently associated with hyperactive parathyroid glands. The majority of MEN1 cases are discovered in people in their 40s, by which time other endocrine glands have begun to be impacted.
Symptoms
Signs and symptoms of MEN 1 include:
- Pain in the bone
- Bone fracture
- Stones in the kidney
- Stomach or intestinal ulcers
- Exhaustion
Too many hormones are released into the body, which result in symptoms.
Diagnosis
Your doctor will conduct a physical examination, go over your medical history, and inquire about your family history to determine if you have multiple endocrine neoplasia, type 1 (MEN 1). You might undergo imaging tests and a blood test, such as the ones listed below:
- Magnetic Resonance Imaging (MRI)
- Computerized Tomography (CT) scan
- Positron Emission Tomography (PET) scan
- Nuclear medicine scans
- Endoscopic ultrasound of the pancreas and other scans
MEN 1-causing genetic mutations can be identified by genetic testing. A person who carries a mutation runs the chance of passing it on to their offspring, who may then develop MEN 1. Even if they have not yet shown symptoms, parents and siblings are still susceptible to the mutation.
There is no need for additional screening tests if family members do not exhibit any associated genetic alterations. Genetic testing does not, however, detect all MEN 1 mutations. Even if genetic testing does not confirm the presence of MEN 1, individuals who are strongly suspected of having the condition, as well as their family members, still require regular and thorough monitoring through appropriate blood and imaging tests.
Treatment
The parathyroids, pancreas, and pituitary gland are all susceptible to tumor growth in MEN 1. The diseases that these tumors can develop to can all be treated. These ailments and their remedies could consist of:
- Pituitary tumors. Surgery or medication therapy are two possible treatments for certain tumor types.
- Hyperparathyroidism. The typical treatment for excessive parathyroid hormone is surgery to remove the majority of the parathyroid glands.
- Neuroendocrine tumors. These are typically seen in the pancreas or small intestine (duodenum). The nature and stage of the tumor determine the course of treatment.
- Hypoglycemic syndrome. This disorder develops when tumors create an excessive amount of insulin (insulinomas), leading to dangerously low glucose levels. Typically, doctors advise surgery and sometimes partial pancreatic removal.
- Zollinger-Ellison syndrome (ZES). Gastrinomas, tumors that create too much stomach acid as a result of ZES, can cause ulcers and diarrhea. Medication or surgery may be recommended by doctors.
- Other pancreatic neuroendocrine tumors. Other hormones that these tumors occasionally produce have a variety of negative health effects. These tumors can be treated with medicine, surgery, or an ablation treatment. Your doctor may remove any aberrant tissue via an ablation surgery.
- Metastatic neuroendocrine tumors. Surgery can be used to treat diseases that have spread to the liver or lymph nodes. Options for surgery include liver surgery, cryoablation, radiofrequency ablation, and chemoembolization.
Through the use of a needle and high-frequency energy, radiofrequency ablation kills adjacent cells by heating up the tissue around it. In cryoablation, tumors are frozen. Additionally, chemoembolization entails infusing potent chemotherapy medications right into the liver. When surgery is not a possibility, medical professionals could turn to hormone-based therapies or other types of chemotherapy.
- Adrenal tumors. The majority of these tumors are treatable only by observation. However, doctors advise removal of the tumors, typically through minimally invasive surgery, if they generate hormones or if they are large and suspected to be malignant.
- Carcinoid tumors. People with MEN 1 can develop carcinoid tumors in their digestive system, thymus, or lungs. When these tumors have not yet metastasized, surgeons remove them. For advanced cases, doctors may utilize hormone-based therapy, radiation therapy, or chemotherapy.
