DISEASE SCANNER

Global Incurable Diseases Tracker

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Genetic Disorder

Lynch Syndrome (HNPCC)

HIGH SEVERITY

The most common hereditary colorectal cancer syndrome, caused by mutations in mismatch repair genes (MLH1, MSH2, MSH6, PMS2, EPCAM). Increased risk of colorectal, endometrial, ovarian, gastric, urinary tract, and other cancers.

Global Affected

800.0K

Countries

15

Symptoms

Early-onset colorectal cancer
Endometrial cancer
Family history of related cancers
Multiple cancers
Synchronous/metachronous colorectal cancers

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

High cancer risk but preventable with surveillance. Colonoscopy reduces colorectal cancer mortality 65%. Endometrial cancer screening recommended. Life expectancy normal with compliance.

Prevention

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

Research Status

Aspirin chemoprevention reduces cancer risk. Colonoscopy every 1-2 years. Immunotherapy (pembrolizumab) highly effective for MSI-high tumors. Risk-reducing surgery considered. Regular surveillance for all at-risk organs.

Affected Countries

AustraliaBrazilCanadaGermanySpainFinlandFranceUnited KingdomIrelandItalyJapanMexicoNetherlandsSwedenUnited States

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.