Lynch Syndrome – Symptoms and Causes

Overview

Lynch syndrome raises a person’s chances of getting several types of cancer. This health condition is genetic, meaning it passes from parents to their children through genes.

Families with Lynch syndrome often show more cancer cases than what doctors would normally expect. These cancers may include colon, endometrial (uterine lining), and other types.

People with this syndrome tend to develop cancer at younger ages than the general population.

This condition was previously called hereditary nonpolyposis colorectal cancer (HNPCC). Healthcare providers now use “Lynch syndrome” when they can identify the specific gene change causing the increased cancer risk in a family.

Signs and Symptoms

People with Lynch syndrome might show several warning signs. These include:

• Colon cancer diagnosis before turning 50
• Endometrial cancer (uterine lining cancer) before age 50
• Having more than one type of cancer
• Family members who had cancer before age 50

Lynch syndrome can also lead to various other cancers in family members:

• Stomach cancer
• Ovarian cancer
• Pancreatic cancer
• Kidney or bladder cancer
• Brain cancer
• Small bowel cancer
• Skin cancer
• Gallbladder or bile duct cancer

Medical Consultation Timing

If someone in your family has Lynch syndrome, tell your healthcare provider right away. Ask them to connect you with a genetics specialist or genetic counselor.

These experts can explain what Lynch syndrome is, how it develops, and whether genetic testing would be helpful for you. Early detection is important for managing potential health risks associated with this condition.

Causes

Lynch syndrome stems from inherited genetic changes. Genes are small parts of DNA that act like instructions for body functions. When cells divide and make new cells, they copy their DNA. Sometimes, errors occur in these copies.

Normally, special genes called mismatch repair genes find and fix these errors. In people with Lynch syndrome, these repair genes don’t work properly. This means DNA errors may go unfixed, potentially leading to cells growing uncontrollably and forming cancer.

This condition follows an autosomal dominant inheritance pattern. If one parent has Lynch syndrome, each child has a 50% chance of inheriting it. This risk is the same regardless of which parent carries the altered gene.

How Lynch Syndrome is Passed Down:

• One parent with the condition = 50% risk for each child
• The risk is equal whether mother or father has the condition
• The altered gene affects the body’s ability to repair DNA mistakes

Lynch syndrome doesn’t skip generations. If someone inherits the faulty gene, they will have Lynch syndrome, though the cancer risks and symptoms may vary from person to person.

Risk Factors

People with a personal or family history of certain cancers have a higher chance of Lynch syndrome. This genetic condition raises cancer risk in several body systems.

Lynch syndrome can lead to cancers in the digestive system, including the colon, stomach, and small bowel. It also affects the biliary system, causing gallbladder and bile duct cancers.

Women face increased risk of reproductive system cancers like endometrial and ovarian cancer. Other potential cancer sites include:

• Brain
• Pancreas
• Skin
• Urinary system (kidneys, ureter, and bladder)

Family history plays an important role in identifying who might need testing for this syndrome.

Complications

Having Lynch syndrome can create several challenges beyond health concerns. These issues affect different areas of your life and need careful consideration.

Privacy Concerns

People with Lynch syndrome often worry about who might access their genetic information. Employers or insurance companies could potentially use this information in ways that might feel unfair.

Genetic counselors can explain legal protections that exist to prevent discrimination based on genetic status.

Impact on Children

If you have Lynch syndrome, each of your children has a 50% chance of inheriting the condition. This creates difficult decisions about when to tell children about the family condition.

You also need to decide how to explain it in age-appropriate ways, and what age testing might be appropriate.

Family Communication Challenges

Lynch syndrome affects entire family networks. Blood relatives who might carry the same genetic mutation should be informed, but sharing this news can be difficult.

Some relatives might not want to know their status, feel anxious about the information, or need support to understand what it means for them.

Genetic professionals can help develop strategies for having these important family conversations in sensitive, effective ways.