Lynch Syndrome and the Challenge of Getting a Diagnosis

March 23, 2024

Lynch Syndrome, also known as hereditary nonpolyposis colorectal cancer (HNPCC), is a hereditary condition characterised by a high risk of various cancers. Because Lynch Syndrome doesn’t show any signs until it leads to cancer, most people who have it don’t even know they have it. It’s estimated that 95% of people with Lynch Syndrome are unaware that they have it. On top of that, getting a diagnosis can be a struggle for many patients. But why?

Lynch Syndrome often goes unnoticed in the general population. This is because many individuals affected may not have a family history of cancer or may show unusual symptoms, making it hard to spot without genetic testing. On the other hand, healthcare providers may lack awareness about Lynch Syndrome, which can lead to missed diagnoses. Also, obtaining a detailed family history of cancer can be challenging in some cases, such as when a person is adopted, limited contact with relatives, incomplete medical records, or lack of knowledge.

Diagnosing Lynch Syndrome typically involves genetic testing to detect mutations in specific genes. However, interpreting these test results can be complicated. Moreover, access to genetic testing for Lynch Syndrome may not be easy or affordable for everyone. Besides, some individuals may hesitate to undergo genetic testing due to concerns about stigma, privacy, or the emotional impact of knowing they have a higher risk of cancer.

To overcome these difficulties, we need doctors and healthcare teams to know more about Lynch Syndrome, provide more accessible ways for people to get genetic testing, and offer simpler ways to find out if someone might have Lynch Syndrome and if they’re at risk.

For more information about Lynch Syndrome, please click here.

For more information in French or Dutch, please click here.

For more information in German, please click here.

For more information in Finnish, please click here or here.

For more information in Swedish, please click here.

Laura Urena

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