Are you getting strange lumps in different places on your body? Maybe you have more teeth than you should have when teething? Although these may seem like normal things, sometimes there can be a serious story behind them. Today we are talking about such a rare, but very important medical condition that everyone should be aware of. That is Gardner Syndrome.
What is Gardner Syndrome, simply put?
Simply put, this is a rare condition that we can get from our parents through genes. It is an inherited disease. A person with this disease starts to develop abnormal tumors in different parts of their body.
What happens is that hundreds of small growths develop inside the colon. These growths are medically called polyps . The most dangerous thing is that if left untreated, all of these polyps have a very high risk of developing into colon cancer .
In addition to the colon, noncancerous tumors can also develop in the bones, intestines, skin, and other soft tissues. People with this disease are also at risk of developing several other types of cancer.
How common is this condition? Who gets it?
This is actually a very rare condition. For example, in a country like America, only one in a million people are diagnosed with this disease.
Because it is a hereditary disease, many people with Gardner syndrome have a higher chance of having a mother or father with the disease. This means that it is passed down through genes from generation to generation.
What are the symptoms of this?
The symptoms of Gardner syndrome change over time. Some symptoms may appear in childhood.
| Time of onset of symptoms | Visible features |
|---|---|
| During childhood |
|
| In youth | There are hundreds of colon polyps. However, these may not show any symptoms at first. By the time symptoms appear, the disease may be very advanced. |
The important thing is that by the time symptoms of colon polyps appear, the disease may be far advanced. Therefore, if someone in your family has this condition, it is very important to get tested early.
What other conditions are associated with Gardner syndrome?
A person with Gardner syndrome is at increased risk of developing the following conditions:
- Extra teeth
- Osteomas (bone tumors)
- Desmoid tumors - Although these are not cancerous, they can grow rapidly and damage surrounding tissue.
- Fatty tumors (Lipomas)
- Fibromas
- Adenomas - Non-cancerous tumors that form in glands.
- Epithelial cysts
- A condition affecting the retina of the eye (CHRPE - congenital hypertrophy of retinal pigment epithelium)
- Stomach cancer
- Liver cancer
- Colon cancer
Why is this happening? What is the reason?
The reason for this is a defect in one of our genes. To be precise, there is a gene called the APC gene . Its main function is to control the cells in our body from dividing and multiplying too quickly. Just like the brakes on a car. Genes like this are called tumor suppressor genes , which means they prevent tumors from forming.
A person with Gardner syndrome has a defective APC gene. This means that the brake that controls cell division does not work. As a result, cells divide uncontrollably and begin to form tumors and polyps.
How does a doctor diagnose this disease?
Because this disease has various symptoms, a doctor uses several tests to diagnose it.
- Genetic tests: This test is done to see if you have a defect in your APC gene. Your doctor may recommend this, especially if someone in your family has the disease.
- Camera tests: These involve inserting a small camera into the body to examine the inside of the intestines.
- Sigmoidoscopy
- Endoscopy
- Colonoscopy - This is what clearly detects polyps in the colon.
What are the treatments for this?
Treatment depends on your symptoms.
Imagine you have extra teeth. That could be an early sign of this disease. Then you have to have a dentist remove those teeth and fix the rest of your teeth. If you have desmoid tumors, you can get treatment like chemotherapy to shrink them.
However, the main and most dangerous problem with this disease is the polyps that form in the colon. Surgery is required to prevent these from turning into cancer.
| Name of the surgery | What is being done |
|---|---|
| Colectomy | Removal of part or all of the colon. This surgery is usually recommended if there are about 20-30 polyps. |
| Proctocolectomy | Removal of most of the colon and rectum. |
Remember, this surgery is the only way to stop polyps from forming in the colon and turning into cancer.
Can this disease be completely cured?
Unfortunately, Gardner syndrome cannot be completely cured.
However, this can be managed well. With the right treatment and regular check-ups, serious conditions like cancer can be detected and treated early. So there is no need to panic.
Is it possible to live a normal life with this disease?
Yes, you can. However, there may be some changes to your lifestyle after surgery. For example, having your colon removed will change the way you digest food and pass stool. You may also need to have a separate passageway and an ostomy bag fitted to the outside of your abdomen. Your doctor will explain this to you in detail.
Surgery to prevent colon cancer from developing due to this disease can extend life expectancy. One study showed that 100% of people who had a proctocolectomy were still alive after 5 years.
How do you take care of yourself?
Living with Gardner syndrome means living with the risk of developing cancer at a young age. It's not easy. Dealing with that uncertainty can be mentally difficult.
Therefore, it is essential to undergo cancer screening tests at the appropriate time. This means that if cancer develops, it can be detected and treated at an early stage.
If you are feeling stressed out by this, talk to your doctor about it. If necessary, seek counseling services.
When should I see the doctor?
If you notice any new changes in your body, for example, a new lump, or a change in your bowel movements, especially if you notice blood in your stool , see a doctor immediately.
What questions should you ask your doctor?
When you see your doctor, don't forget to ask these questions.
- What are the current treatments for my symptoms?
- Will I need surgery?
- What tests should I have? How often should I have them?
- What changes in my body should I pay particular attention to?
- Is it a good idea for the rest of my family to get genetic testing?
Gardner syndrome is not something to be afraid of, but it is a condition that should be faced with caution and proper management. With proper medical advice and testing, you can live a healthy, long life.
Take-Home Message
- Gardner syndrome is a rare genetic condition that is passed down from parents.
- The main risk here is that almost all polyps that form in the colon turn into cancer.
- Early signs of this may include extra teeth appearing during childhood or non-cancerous tumors developing in the body.
- Although this cannot be completely cured, it can be very well managed with regular medical check-ups and surgery.
- If you or someone in your family has these symptoms, it is important to seek medical advice immediately. Talk openly with your doctor about both your physical and mental health.
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