Multiple endocrine neoplasia (MEN) is the collective term for various cancers of the endocrine glands, which are based on genetic defects, i.e. hormone-producing glands such as the pancreas, parathyroid gland and pituitary gland. Long-term therapy is usually only possible by completely removing the relevant gland.
What is multiple endocrine neoplasia?
Multiple endocrine neoplasms can be divided into type 1 (MEN 1, Wermer syndrome), type 2A (MEN 2A, Sipple syndrome) and type 2B (MEN 2B, William syndrome and Gorlin syndrome) depending on the physiological characteristics and other specifics will. See foodezine for Everything about Leukopenia.
MEN 1 primarily affect the parathyroid, pancreas, and pituitary glands. Typically, the neoplasms in the affected endocrine glands do not react to regulatory control hormones, so that the hormone production in the glands is usually excessive. Thyroid, parathyroid, and adrenal medulla may develop MEN 2A and 2B neoplasms.
In type 2B, neoplasms can also develop in other organs at the same time. Strictly speaking, there are the other subgroups of types 3A, 3B and 3C, which mainly affect the parathyroid glands, the sympathetic nervous system and the digestive tract.
Type 1 multiple endocrine neoplasias are “allowed” by a mutated tumor suppressor gene on chromosome 11 – not caused. The gene that normally gives the order to fight such growths loses its effectiveness through the mutation, so that endocrine active tumors and other neoplasms can form on the affected endocrine glands without being suppressed by the body’s own means.
Type 2 MEN is caused by a mutation in another gene that causes protooncogenes to lose their function. With cell divisions in the affected organs, the growth process can no longer be controlled, so that the development of neoplasia is not controlled and slowed down by the body’s own resources.
Both gene mutations can be detected in a gene analysis and both gene mutations are inherited in an autosomal dominant manner, which means that the parent who is affected by one of the gene defects passes the gene defect on to all children and they have a 50 percent risk of developing the disease.
Symptoms, Ailments & Signs
The symptoms of multiple endocrine neoplasia depend on the form of the disease. In MEN type 1 (Wermer syndrome), the parathyroid glands, pancreas and pituitary gland are particularly affected. Hyperplasia occurs in the parathyroid glands, which is accompanied by a condition known as hyperparathyroidism.
Patients have too much parathyroid hormone in their blood. This mainly leads to bone loss. Neoplasms of the pancreas with excessive production and release of hormones have a negative effect on the metabolism in particular. A consequence of this neoplasia is the Zollinger-Ellison syndrome, which is characterized by ulcers in the stomach and small intestine.
In the case of multiple endocrine neoplasia, prolactinomas in particular occur in the pituitary gland. These are tumors that produce the hormone prolactin. As a result, women stop ovulating and menstrual bleeding. Some patients also develop galactorrhea, which means they continue to produce breast milk in their mammary glands outside of pregnancy and breastfeeding.
In men, on the other hand, erectile dysfunction and loss of libido are the main issues. Galactorrhea rarely occurs here. The thyroid and adrenal medulla can also be affected by multiple endocrine neoplasia. Nervousness, increased blood pressure or diarrhea are then among the symptoms.
Diagnosis & History
In principle, a willingness to develop multiple neoplasias of type 1 and 2 can be determined in a genetic analysis, which is particularly useful if there are already cases of MEN in the family and there are no ethical reasons against a genetic analysis.
Early indicators of the presence of MEN 1 are elevated levels of certain hormones produced by the endocrine glands. The increased values can be an indicator of endocrine active neoplasms that have already developed and do not react to control hormones.
If tumors are already formed in at least 2 of the 3 affected organs at the same time, the suspicion of MEN 1 is confirmed. The course of the disease in MEN 1 and 2 is very severe without treatment. In the case of endocrine active neoplasms, there is usually a significant overconcentration of the specific hormones in the affected glands and, on the other hand, malignant carcinomas can be life-threatening.
As a rule, those affected by this disease suffer from various cancers. The further course depends very much on the disease that is pronounced in each case, so that a general prediction of the course of the disease is usually not possible. In most cases, those affected suffer from pain in the abdomen and stomach and, associated with this, often also from a lack of appetite.
This leads to malnutrition and usually to weight loss. Patients may experience vomiting or nausea and complain of muscle pain. As a rule, this disease leads to a significantly reduced quality of life and also to various restrictions in the everyday life of the person affected.
If left untreated, the patient will usually die prematurely. Self-healing does not occur in this case. During treatment, patients are dependent on surgical interventions to remove the tumors. There are no further complications. However, the further course depends heavily on the severity of the tumors. The patient’s life expectancy may also be reduced by the disease.
When should you go to the doctor?
If characteristic symptoms such as hormonal imbalances or a disturbed bone structure are noticed, a doctor should be consulted. Multiple endocrine neoplasia is a serious disease that needs to be diagnosed and treated as early as possible. Otherwise, serious physical problems can develop that permanently affect the quality of life and well-being of the patient. Therefore, medical advice should be sought at the first sign of illness.
If you notice disorders of the nervous system, organ pain or psychological complaints such as depression and mood disorders, it is best to inform your family doctor. He can diagnose any tumors and initiate further treatment measures. In addition to the general practitioner, an internist or a neurologist can also be consulted if multiple endocrine neoplasia is suspected. Depending on the location of the tumors, you should also see a gastroenterologist and nephrologistconsult. The actual treatment takes place as an inpatient in a specialist clinic for internal diseases. During the treatment, close monitoring by a specialist is necessary, as there is a risk of serious complications due to the mostly advanced symptoms.
Treatment & Therapy
Treatment of multiple endocrine neoplasia is highly dependent on the organ involved and the stage of the cancer. If e.g. If, for example, mutated genes are detected in a child in the gene analysis, which prognosticate the disease with MEN 2 with the highest probability, a timely surgical removal of the thyroid gland (thyroidectomy) is urgently recommended, including the removal of all lymph nodes in the neck area in order to avoid possible from the outset Remove metastases in the lymphatic area near the thyroid gland.
Depending on the severity of the analyzed gene mutations, this total operation should be performed on children between the ages of 6 and 12. In some cases, the so-called pentagastrin test can be carried out at regular time intervals, which indicates the development of an endocrine active carcinoma of the thyroid or parathyroid gland. Should e.g. For example, if all 4 parathyroid glands are affected, the tissue must be almost completely removed with the exception of a small remnant in order to preserve the natural production of the parathyroid hormone (parathyroid hormone), which plays a very important role in calcium balance.
In specialized clinics, part of the removed parathyroid tissue is frozen so that it can be implanted back into the patient if the parathyroid tissue left in the body does not “trigger” and does not produce parathyroid hormone.
Outlook & Forecast
The prognosis of multiple endocrine neoplasia is unfavorable. Patients who receive such a diagnosis suffer from a genetic defect. Current legislation prohibits researchers and scientists from altering human genetics. Therefore, the measures of a treatment are limited to the alleviation of the existing and individually pronounced symptoms.
Although there are many therapeutic approaches that alleviate numerous symptoms, the prospect of recovery is not given at the current stage. Long-term therapy and regular check-ups are necessary so that any irregularities that occur can be responded to as quickly as possible. Without adequate and comprehensive medical care, the risk of shortening the expected lifespan is significantly increased.
Patients suffer from various cancers that contribute to a significant deterioration in the overall quality of life. The possibilities to organize everyday life are reduced, so that the focus of the treatment initiated is not only to improve physical possibilities but also to optimize well-being. Many patients have the affected glands removed. This reduces the chance of cancer coming back. At the same time, however, this procedure has numerous side effects and consequences for the patient. Dealing with the disease is therefore a particular challenge for those affected.
There is no direct prevention against the occurrence of the various forms of MEN. If a genetic analysis confirms the suspicion of one of the forms of MEN due to familial genesis, ongoing screenings are recommended from the age of 10.
Certain hormone levels are checked in laboratory tests to determine whether endocrine active neoplasms have already formed. In addition, the use of imaging diagnostic methods such as ultrasound, CT, MRT and fMRT is necessary according to the specifications of the specialists. Even the prophylactic removal of a threatened endocrine organ can be life-saving.
Patients with multiple endocrine neoplasia suffer more often than other people from carcinomas of organs related to the hormonal balance of the body. Those affected not only develop tumors more often, but on average develop cancer at a younger age. Follow-up care for people with multiple endocrine neoplasia is therefore primarily related to the postoperative condition.
Diagnosed carcinomas should be surgically removed if possible or treated with other types of therapy. After the surgical procedure, patients must remain under medical observation for a specified period of time. This reduces the likelihood of postoperative complications and at the same time enables rapid intervention.
However, some forms of cancer in multiple endocrine neoplasia have the property of forming recurrences. The focus of follow-up care is therefore on check-ups that regularly check the patient’s state of health and investigate recurrence or the development of new types of carcinoma. In this way, rapid medical intervention is possible if those affected fall ill again.
In general, patients with multiple endocrine neoplasia support their state of health by as healthy a lifestyle as possible, especially with regard to the predisposition to certain carcinomas. However, since it is a genetic disease, the risk of cancer can only be slightly influenced.
You can do that yourself
The symptoms of multiple endocrine neoplasia can be counteracted in everyday life with targeted measures. Typically, multiple organs are affected by the disease. It is therefore important to identify any genetic defects and also to examine family members. The sick people should definitely have the screening examinations carried out.
In order to avoid problems with an increased acid level, a change in diet makes sense. In addition, the MEN disease affects the blood sugar level and leads to strong fluctuations. Those affected must therefore keep a close eye on any changes in the gastrointestinal tract. This reduces problems such as constipation and diarrhea. Changes in the skin can also occur. Increased awareness is required here in order to take action in good time if necessary.
Depending on the severity of the multiple endocrine neoplasia, doctors often recommend surgical removal of the thyroid gland as a preventive measure. Here it is important to follow the doctor’s recommendations and to find out about the subsequent drug therapy. After the thyroid gland has been removed, taking thyroid hormones is unavoidable. So it takes a lot of attention and heightened awareness to use the medication properly and to watch your body.