Lynch Syndrome: An Overview

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Lynch syndrome is an inherited genetic condition that increases risk for colorectal and other cancers. It is the single most common cause of hereditary colorectal cancer. Here’s what you need to know about the condition.

What causes Lynch Syndrome?

Lynch syndrome, sometimes called hereditary nonpolyposis colorectal cancer, is inherited by children from their parents. It is inherited in an autosomal dominant pattern, meaning that only a single copy of the altered gene needs to be present. So, if someone inherits a mutation in a gene related to the syndrome, they will still have a normal copy. However, cancer occurs when a second mutation affects the normal copy of the gene.

The specific genes involved in the syndrome are all involved in repairing errors that occur during DNA replication. If any of the genes (MLH1, MSH2, MSH6, and PMS2) have a mutation, errors occurring in replication accumulate, which can end up leading to uncontrolled cell growth and cancer.

Complications from Lynch Syndrome

If you have Lynch syndrome, you have a higher risk of developing colorectal cancer, and developing it at a younger age. People with the syndrome also have a higher risk of developing kidney, stomach, brain, liver, uterine, and some skin cancers. There are several other inherited conditions that can increase your risk of colon cancer, but this syndrome is the single most common. A rough estimate is that around 3% of all colorectal and endometrial cancers are caused by the syndrome. Around 1 in 279 people in the United States have Lynch syndrome.

In addition, having Lynch syndrome has impacts on the rest of your family. First, a positive diagnosis means that your blood relatives may have a chance of having the syndrome. In addition, any children you may have are at a higher risk of having it. If one parent has a genetic mutation related to the syndrome, a child has a 50% chance of inheriting it. This is because the syndrome is autosomal dominant, as discussed previously. You may want to meet with a genetic counselor to talk through these implications if you have a Lynch syndrome diagnosis.

The Importance of Family History

Since you inherit Lynch syndrome, knowing your family history related to colorectal cancers is crucial. If your family has a history of colorectal or endometrial cancer, you should talk with your doctor to evaluate your risk. In particular, you are more likely to have the syndrome if your family has a history of colorectal cancer at a young age, endometrial cancer, or other related cancers.

Your doctor may recommend a genetic evaluation of your family history and risk. Genetic counselors can help you understand Lynch syndrome and whether genetic testing is a good option for you. Usually, family members with the syndrome share the same specific genetic mutation. If any of your family members have a known a syndrome mutation, you may be tested for the same mutation if you are pursuing genetic testing.

The good news is that we can prevent a lot of the cancers caused by Lynch syndrome with early screenings. Screening early and often can help catch cancer early and lead to better outcomes.

Our experienced team at GHP has years of experience screening for and treating cancers caused by Lynch syndrome. We can help establish the best plan of care for your situation. Contact any of our office locations to learn about the options we offer and schedule an appointment today.

Colorectal Cancer Screening at 45

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Colorectal cancer screening is a crucial step to identify cancer early and save lives. Previous medical guidance has dictated that screenings should start at age 50 in most cases. However, the American Cancer Society now endorses screenings starting at age 45. Gastro Health Partners endorses this approach as well. Here’s an overview of why screening is so important, and what your options are.

Colorectal Cancer

Colorectal cancer, sometimes called colon cancer, is cancer that occurs in the rectum or colon. Abnormal growths called polyps can grow in the colon or rectum and become cancerous. When this happens, cancers grow into the wall of the colon or rectum over time. They then have the potential to spread into lymph vessels or blood vessels and travel to other parts of the body.

Screening is important because it can prevent the development of colorectal cancer and more widespread cancer in the body. If caught early, colorectal cancer is often very treatable. For example, during a screening, precancerous polyps in the colon or rectum can be removed before they become cancerous. Screening is a life-saving preventative measure: in this case, there is a 90% survival rate when cancer is found and treated early on. It is also helpful because many people will not exhibit symptoms until their colorectal cancer has progressed significantly. Getting screened can help doctors catch and treat cancer before it develops or spreads significantly.

Who Should be Screened and When?

Screening is the key prevention strategy for all adults. Everyone should get a screening regularly at a certain point. As mentioned before, the previous guidance was most people should be screened starting at age 50. Now, guidance has shifted to starting at age 45.

Additionally, other factors can influence when and how often you should be screened. If your family has a history of colon cancer, if you have had polyps, or if you have an inflammatory bowel disease or some genetic disorders, you may need to be screened earlier and/or more often.

Types of Screening and How Often to Get Screened

There are a few main screening options. You should talk with your doctor to determine the best path for you. As alluded to, the colonoscopy is the gold standard for screenings. During a colonoscopy, your doctor is able to look at your entire colon and can remove polyps. You may only need a colonoscopy once every 10 years if you have a negative screening. Another screening option is a Flexible Sigmoidoscopy, which is performed every 5 years with negative screenings. The downside of this method is that it doesn’t give a full view of the colon like a colonoscopy does. Only the lower parts of the colon are viewable with this test.

There are also a few stool-based screenings available. With stool tests, you collect a stool sample at home and send it in to your doctor for analysis. This method does not identify abnormalities as effectively as a colonoscopy. Doctors may also pursue follow-up testing if they confirm a positive result. There are a few other screening options that may be available as well, like a Capsule Endoscopy or a CT Colonography. Your doctor will recommend the best option based on your specific case.

Getting screened for colorectal cancer is an extremely effective way to prevent cancer. Our experienced team at GHP has years of experience performing screenings. We can help establish the best plan of diagnosis and care for your situation. Contact any of our office locations to learn about the options we offer and schedule an appointment today.

Actor Will Smith and His Colonoscopy

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Actor Will Smith recently posted a vlog on his YouTube channel documenting the process of getting a colonoscopy. His video is a great up-close look at the process and why it is so important for everyone.

The Colonoscopy Video

Will uploaded the video on YouTube on November 6, 2019. Will Smith turned 50 in 2019 and his doctor advised him to get screened for colorectal cancer. The video starts with him asking his doctor about the logistics of the procedure. He also documents the effects of the colonoscopy prep, and shows footage of him entering the exam room on the day of the procedure. We also see Will after the procedure under lingering effects of anaesthetic. The video ends with Will’s doctor talking through the exam results with him.

During the procedure, doctors actually found a polyp and removed it. Polyps are pre-cancerous lesions that are common in the colon. They removed the polyp and sent it to biopsy, where it was determined to be a tubular adenoma, a benign type of polyp that has the potential to become cancerous.

Will’s doctor speaks about her gratefulness that he was a compliant patient who took her recommendation for screening. She explains that the type and location of polyp Will had could have made it virtually unnoticeable if he hadn’t gotten screened; it is likely that by the time he started to show symptoms, it would have spread to other parts of his body. The video ends with his doctor talking through all of this and recommending a follow-up screening in the next two or three years, since he had a polyp. You can watch the video here.

A History of Celebrities Raising Awareness of Screenings

Will isn’t the first celebrity to publicize their own experience with a screening. Back in 2000, Katie Couric got a colonoscopy on the Today show to raise awareness on the importance of colon cancer screenings. Her husband had died of colon cancer in 1998. She went on to co-found the National Colorectal Cancer Research Alliance. In 2018, Couric also accompanied TV host Jimmy Kimmel through the colonoscopy process on his show.

The impact of celebrity promotion of screenings may be significant. In the year following Katie Couric’s Today show colonoscopy, there was a significant increase in screenings in the United States. A study from 2003 found that colonoscopy utilization rates increased in two large data sets following Katie’s promotion.  The first data set found an increase in the number of colonoscopies performed per month from 15 to 18.01. Additionally, analysis of the second data set, which was comprised of adults in a managed care organization, found that colonoscopies increased from 1.3 per 1000 people per month to 1.8 per 1000. This finding of increased screenings is called the Katie Couric Effect.

The Importance of Destigmatizing Colonoscopies

This video is important in a lot of ways. Having a celebrity share their experience with colon cancer screening can impact a lot of people and save many lives. As of the writing of this blog post, over 3.2 million people have watched the video.

Many people are uncomfortable with the idea of a colonoscopy, and avoid screenings for far too long. In particular, the idea of having an endoscope enter your body through your anus and the bowel prep associated with the procedure are barriers for some people. This is a problem, because screenings are extremely effective: colon cancer is the second leading cause of cancer-related death in the US and the survival rate for early detection of colon cancer is around 92%. Clearly, screenings save lives.

Our experienced team at GHP has years of experience performing colorectal cancer screenings. We can help establish the best plan of care for your situation. Contact any of our office locations to learn about the options we offer and schedule an appointment today.

Colonoscopy: What to Expect

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A colonoscopy is a procedure that allows a physician to examine a patient’s colon. Colonoscopies are often used to evaluate GI disorders and screen for colon cancer. Here’s what you need to know if you are preparing for a colonoscopy.  

When it’s used

There are a few reasons your doctor may recommend a colonoscopy. The procedure is commonly used as a screening tool for colon cancer, which starts from polyps in the colon. A colonoscopy can help your doctor examine your colon for any polyps and other warning signs of colon cancer. You may also need a colonoscopy if you have previously had polyps. In this case, your doctor will likely look for more polyps and remove any, as a preventative measure against colon cancer. Last, you may need a colonoscopy if you have any GI pain or distress that your doctor needs to identify and diagnose through examination. 

Preparing for a Colonoscopy

There are a few important pre-procedure steps you need to take leading up to a colonoscopy. You will be asked to adhere to a cleansing routine the day before the procedure. This typically consists of taking a liquid laxative the day before to empty your bowels, and switching to a clear liquid diet. You may be asked to drink plenty of liquids as well. Following the instructions on laxative use is a crucial step to properly prepare for the exam, so always be diligent in this regard. 

In addition to the cleansing routine, you should also discuss any medications you use with your doctor. You may have to stop use of some medications like blood-thinners prior to the procedure. This is because some of these medications can increase the risk of excessive bleeding. If you use insulin, you may need to adjust dosage and timing the day of the procedure. Your doctor will also want to know about any allergies to medication you have. 

What to Expect During the Procedure

A colonoscopy takes about 20-30 minutes in total. You will be sedated for the entire procedure, so there is no discomfort during it. Your doctor will monitor your heart rate, blood oxygen levels, and blood pressure throughout the process as well. During the procedure, your doctor will insert a colonoscope (a thin, flexible tube with a light and camera) in your anus while you lay on your side and advance it to the end of your colon. The camera and light allow your doctor to fully examine the colon lining. 

If your doctor sees anything they want to analyze further, they may take a small tissue sample (biopsy) for later analysis. In the case that they see any bleeding during the examination, they can feed instruments through the colonoscope to medicate, cauterize, or clip affected areas and control bleeding. If they find any polyps, they can use an instrument threaded through the colonoscope to remove them. None of these techniques cause discomfort during the procedure. 

After the Procedure

It typically takes around an hour to mostly recover from the sedation after a colonoscopy. As such, you should always have someone take you home afterwards. The effects can linger to an extent for the next 24 hours, so you should avoid driving, making important decisions, or working for that period of time as well. If any polyps were removed during the procedure, you may be prescribed a temporary special diet. It’s common to pass gas and feel bloated for a few hours after the exam. Walking can help ease some of this discomfort. 

You may see a small amount of blood in your stool during your first bowel movement post-procedure; this is not cause for alarm most of the time. However, if bleeding persists or you develop a fever or consistent bowel pain within a week or two of the procedure, you should contact your doctor. 

Our experienced team at GHP has years of experience performing colonoscopies. We can help establish the best plan of care for your situation. Contact any of our office locations to learn about the options we offer and schedule an appointment today.