Overview
Multiple endocrine neoplasia, type 2 (MEN 2) is a rare genetic condition that causes tumors to form in various parts of the body, including the thyroid and parathyroid glands, adrenal glands, lips, mouth, eyes, and digestive tract. There are two types of MEN 2: MEN 2A and MEN 2B. MEN 2A, also known as classical MEN 2 or Sipple syndrome, is characterized by medullary thyroid cancer and noncancerous tumors of the parathyroid glands and adrenal glands. MEN 2B, on the other hand, is associated with pheochromocytomas (tumors of the adrenal glands), which can cause high blood pressure and other symptoms. MEN 2 is inherited, meaning people with the changed gene can pass it on to their children. Each child has a 50% chance of inheriting the disorder. Symptoms can include tiredness, bone pain, broken bones, kidney stones, and ulcers in the stomach or intestines, caused by the release of too many hormones in the body. Genetic testing can identify the changed gene, and early detection and management can help prevent complications. If MEN 2 is detected in a family member, genetic testing is recommended for other family members to assess their risk.
Understanding the disease
Symptoms
MEN 2, or Multiple Endocrine Neoplasia type 2, is an inherited condition that can cause multiple endocrine tumors. The symptoms of MEN 2 depend on the specific endocrine glands and hormones affected. Some common symptoms may include:
- Hypercalcemia: An excess of calcium in the blood, which can lead to symptoms like fatigue, nausea, vomiting, constipation, and abdominal pain.
- Thyroid tumors: MEN 2 can cause benign or malignant tumors in the thyroid gland. Symptoms can include an enlarged thyroid gland (goiter), hyperthyroidism, or hypothyroidism, depending on the type of tumor.
- Parathyroid hyperplasia: Enlargement and overactivity of the parathyroid glands, leading to high blood calcium levels and symptoms like bone pain, kidney stones, and constipation.
- Adrenal tumors: Pheochromocytoma, a type of tumor in the adrenal glands, can cause symptoms like high blood pressure, rapid heart rate, anxiety, headaches, and palpitations. Medullary thyroid cancer: MEN 2 increases the risk of developing medullary thyroid cancer, which can cause symptoms like a lump in the neck, difficulty swallowing, or breathing, or pain in the anterior neck. It's important to note that the symptoms of MEN 2 can be non-specific and can be caused by other conditions. If you suspect you or a family member may have MEN 2, consult with a healthcare provider for proper evaluation and guidance.
Risk Factors
Risk factors for developing MEN 2 include having a family history of the disorder and carrying the gene mutation responsible for the condition. If someone in your family has been diagnosed with MEN 2 or related conditions, you may be at a higher risk of inheriting the gene mutation. Additionally, if you have a personal history of medullary thyroid cancer, you may be screened for MEN 2.
Development
Male hypogonadism can develop in various ways, depending on the cause and timing. Some types of male hypogonadism can be treated with testosterone replacement therapy. The effects of hypogonadism depend on when the condition develops, and signs and symptoms may include impaired growth of the external sex organs, early or delayed onset of puberty, and difficulty producing sperm. The development of male sex characteristics is triggered by the presence of testosterone, which is produced by the testes. In the absence of male hormones, male genitals may not develop fully, resulting in ambiguous genitalia. If you have concerns about male hypogonadism or related conditions, it is important to consult a healthcare provider for proper evaluation and guidance.
Assessment and Diagnosis
Triage
You should see a doctor if you or a family member have persistent signs or symptoms that concern you, even if there is no family history of MEN 2. Genetic testing is recommended for family members of someone with MEN 2 to identify if they have the changed gene, and if so, early intervention can be taken to manage the condition. If no gene changes are found, regular blood and imaging tests will be conducted over time to monitor for signs of the disease. If you are concerned about your risk of MEN 2, discuss your concerns with your doctor, who can advise on appropriate screening tests and procedures.
Management and Treatment
Complications
Potential complications of MEN 2 include the following:
- Tumors in the thyroid and parathyroid glands, adrenal glands, lips, mouth, eyes, and digestive tract.
- Medullary thyroid cancer and noncancerous tumors of the parathyroid glands and adrenal glands (MEN 2A, also known as classical MEN 2A or Sipple syndrome).
- Inflammation in the heart, lungs, spleen, brain, and superficial veins.
- Urinary tract issues, such as an increased risk of urinary tract infections due to a kidney structure that is not typical.
- Fertility issues in males, including low sperm count and other fertility problems caused by undescended testicles or testicles that do not work properly.
- A higher risk of developing certain types of cancer, such as leukemia or certain types of tumors. It's important to note that these complications can be managed and possibly lessened with proper and ongoing care if MEN 2 is detected early. Genetic testing can identify the changed gene that causes MEN 2, and health care providers can treat the health issues associated with the condition.
Treatment
Treatments for MEN 2 (Multiple Endocrine Neoplasia, type 2) typically involve managing the symptoms and addressing the specific health issues caused by the condition. Since MEN 2 is a rare inherited disorder that leads to tumor development in several glands and organs, treatments may vary depending on the specific health issues and severity of the symptoms. Some common approaches include:
- Surgery: For tumors that are causing problems or are cancerous, surgical removal may be necessary. This could involve removing part or all of the thyroid or parathyroid glands, adrenal glands, or other affected organs.
- Medications: Depending on the specific symptoms, various medications may be prescribed. For instance, for high calcium levels, medications like bisphosphonates or diuretics can be used. For low thyroid hormone levels, synthetic thyroid hormone replacement therapy is often given.
- Radiation therapy: In some cases, radiation therapy may be employed to shrink tumors or slow down their growth.
- Hormone therapy: This may involve the use of medications that help regulate hormone production and reduce the effects of excess hormones on the body. It is important to consult a healthcare provider for personalized treatment recommendations based on the specific symptoms and health issues experienced by the individual.