"Multiple Endocrine Neoplasia Type 4" – What Is It?
Multiple endocrine neoplasia type 4 (MEN4) is a genetic, i.e., inherited, disease caused by genetic changes in the CDKN1B gene. Affected individuals have a significantly increased risk of developing parathyroid tumors associated with hyperparathyroidism (PHPT) and tumors of the anterior pituitary neuroendocrine tumors (PitNET). MEN4 is, therefore, clinically similar to multiple endocrine neoplasia type 1 (MEN1). In addition, benign tumors of the kidney (angiomyolipomas), hormone-active tumors of the gastrointestinal tract and pancreas, and tumors of the uterus, adrenal glands, and thyroid gland can occur.
How Is "Multiple Endocrine Neoplasia Type 4" Diagnosed?
Genetic Diagnostics
Genetic diagnostics for a mutation of the CDKN1B gene should be performed in all individuals with PHPT in whom no genetic alteration in the MEN1 gene has been found.
What Is the Risk of Cancer?
To date, all patients with CDKN1B mutations have been diagnosed with PHPT, and tumors of the anterior pituitary gland (PitNET) have occurred very frequently. In addition, benign tumors of the kidney (angiomyolipomas), hormone-active tumors of the gastrointestinal tract and pancreas, and tumors of the uterus, adrenal glands, and thyroid gland can occur.
Due to the small number of patients, no data on the risk for individual diseases is available.
The earliest initial manifestation was acromegaly (enlargement of hands, feet, ears, nose, and chin) in a 30-year-old patient.
What Is Known About the Development of "Multiple Endocrine Neoplasia Type 4"?
MEN4 is caused by a mutation, i.e., a genetic change in the CDKN1B gene. This gene codes for p27kip1, a protein that blocks the replication of genetic material in the normal state. If the CDKN1B gene is now present in an altered form, the protein no longer functions properly, so genetic material is duplicated in excessive numbers, and tumors can develop.
MEN4 can be passed on from parents to their children. The inheritance is autosomal dominant.
Is There Any Form of Treatment Available?
Treating individual diseases is analogous to therapy in the context of MEN1.
Diagnosis of " Multiple Endocrine Neoplasia Type 4" What's Next?
If you have been diagnosed with this cancer predisposition syndrome, it is important to see a specialist. The following section explains whether cancer screening tests or other measures are needed and how they should be carried out. We also give you some valuable tips on what you can do yourself. If you have any questions, please do not hesitate to contact us or your doctor.
Diagnosis of " Multiple Endocrine Neoplasia Type 4" What's Next?
If you have been diagnosed with this cancer predisposition syndrome, it is important to see a specialist. The following section explains whether cancer screening tests or other measures are needed and how they should be carried out. We also give you some valuable tips on what you can do yourself. If you have any questions, please do not hesitate to contact us or your doctor.
Medical Measures for Early Detection
Due to the low number of patients, no standardized screening recommendations are available. Based on previous observations, the following recommendations are currently made:
Regular Clinical Examinations From an Early Age
- Is there giant growth or acromegaly (enlargement of hands, feet, ears, nose, chin)? This would be a sign of growth hormone excess, as can occur with PitNET.
- Is Cushing’s syndrome present (“full moon face,” truncal obesity, “bull neck,” elevated blood pressure, etc.)? This would be a sign of glucocorticoid excess, as can occur with PitNET.
- Measuring body height and plotting the values in so-called percentile curves
Blood Tests (Annually)
- From childhood: serum calcium corrected for serum albumin
- From adolescence: IGF-1
Multiple Endocrine Neoplasia Type 4 – What You Can Do Yourself
You Should Pay Attention to This
Hyperparathyroidism can manifest itself as bone pain. In addition, kidney or gallstones may occur, which can cause pain in the flank area or upper abdomen.
Pituitary tumors can cause headaches, visual disturbances, or hormonal disorders, which can manifest themselves in gigantism, acromegaly, or Cushing’s syndrome (see measures for early detection).
If you notice any of the above signs or other complaints or symptoms, a visit to the doctor and further diagnostics are urgently recommended.
Further Information
Unfortunately, we are not yet aware of any self-help groups for patients with multiple endocrine neoplasia type 4. As soon as we have new information, we will add it here. However, patients can also register for the CPS registry at any time or have this done by their doctors.
Any further questions?
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