DISEASE SCANNER

Global Incurable Diseases Tracker

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Genetic Disorder

Multiple Endocrine Neoplasia (MEN)

HIGH SEVERITY

A group of inherited syndromes causing tumors in multiple endocrine glands. MEN1 (menin gene): parathyroid, pituitary, pancreas. MEN2 (RET gene): medullary thyroid carcinoma, pheochromocytoma, parathyroid hyperplasia.

Global Affected

50.0K

Countries

15

Symptoms

Hypercalcemia (MEN1)
Kidney stones
Hormonal excess symptoms
Thyroid nodules (MEN2)
Hypertension (MEN2)
Abdominal pain
Peptic ulcers

Treatment Options

Genetic counseling
Supportive care
Symptom management
Enzyme replacement (if applicable)
Physical therapy
Regular monitoring
Multidisciplinary care

Risk Factors

1Family history
2Genetic mutations
3Consanguinity
4Advanced paternal age
5Ethnic predisposition

Diagnostic Methods

  • 1Genetic testing
  • 2Clinical evaluation
  • 3Family history assessment
  • 4Specialized laboratory tests
  • 5Imaging studies
  • 6Biopsy (if applicable)

Prognosis

MEN1: Median survival reduced by 10-15 years without screening; parathyroid and pancreatic tumors are main causes of morbidity. Regular screening allows early intervention. MEN2A: Prophylactic thyroidectomy by age 5 virtually eliminates medullary thyroid cancer mortality. MEN2B: Earlier thyroidectomy (by 6 months) needed due to aggressive MTC. Pheochromocytoma is rarely malignant but requires monitoring. Genetic testing of at-risk family members essential.

Prevention

  • Genetic counseling
  • Carrier screening
  • Prenatal diagnosis
  • Preimplantation genetic diagnosis
  • Family planning

Research Status

Prophylactic thyroidectomy for MEN2 by age 5. Surveillance for MEN1 tumors. Surgical removal of tumors. Genetic testing for family members. Screening and early intervention improve outcomes.

Affected Countries

United StatesUnited KingdomCanadaAustraliaGermanyFranceItalySpainJapanBrazilMexicoNigeriaSouth AfricaIndiaChina

Sources

  • https://www.ncbi.nlm.nih.gov/books/NBK1116
  • https://medlineplus.gov/genetics
  • https://rarediseases.org

Medical Disclaimer

This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.