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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.

Featured press release: DHPA Supports USPSTF Recommendations to Begin CRC Screening at 45, Calls for More Research on Disparities in Communities of Color

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The Digestive Health Physicians Association recently announced its support for the U.S. Preventive Services Task Force (USPSTF)’s draft recommendation to begin colorectal cancer screenings at age 45. Gastro Health Partners endorses these changes as well. Read more about the DHPA’s support for the changing guidance in this press release:

“Washington, DC – The Digestive Health Physicians Association (DHPA) voiced its support for a draft recommendation by the U.S. Preventive Services Task Force (USPSTF) that Americans begin screening for colorectal cancer at the age of 45, an update of 2016 guidelines that had recommended that adults without risk factors for CRC should begin screening at age 50 and continue periodically until 75.”

Click here to read the full press release

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.

Featured article: Colon cancer screening should start at 45, government panel recommends

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Colon cancer screening guidelines are changing, and starting screenings earlier will help save lives. Gastro Health Partners fully endorses these changes. Read more about the changing guidelines in this featured article from NBC News:

Colon cancer screening should start at 45, government panel recommends

Screening for colorectal cancer should start at age 45, five years earlier than is currently recommended, according to draft guidelines from the U.S. Preventive Services Task Force.

The update was prompted by recent studies showing the rate of colorectal cancer rising in younger people, according to the draft, published Tuesday.

Click here to read the full article…

 

Flexible Sigmoidoscopy: Everything You Should Know

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A flexible sigmoidoscopy is an endoscopic examination that helps doctors view the lower colon and rectum.  Here’s a closer look at the procedure. 

Why is a Flexible Sigmoidoscopy performed?

Flexible sigmoidoscopies can help doctors determine the cause of symptoms like rectal bleeding, abdominal pain, and changes in bowel habits. Additionally, doctors can use the procedure as a screening tool. They may recommend that people over the age of 50 have these exams on a regular basis to check for signs of colon cancer. While a colonoscopy is often used to do this, the flexible sigmoidoscopy offers a few advantages. For one, it is less involved in terms of preparation and exam time. It also does not typically require an anaesthetic, and it has a lower risk of perforation.

Preparing for a Flexible Sigmoidoscopy

To prepare for the procedure, you should always talk to your doctor about any medications you are taking. Additionally, they will give you instructions for bowel prepping before the exam. A bowel prep helps ensure there is as little stool as possible is present in the intestine during the exam. Doctors usually prescribe a clear liquid diet the day before the exam, and avoiding consuming anything after midnight the day of the exam. The bowel prep may also involve laxatives or enemas. You may need to consume a certain volume of liquid laxative leading up to the procedure. If your doctor prescribes an enema, you should use it the night before the procedure to wash out the rectum. 

During the procedure

During a flexible sigmoidoscopy, the patient is positioned on their left side with their knees drawn up towards their chest. The doctor first does a digital rectal exam, inserting a lubricated, gloved finger into the patient’s rectum to check for anything abnormal. Next, they insert the sigmoidoscope into the rectum. This may feel like pressure to the patient. The doctor then adds air through the sigmoidoscope to expand the colon, allowing them to see more clearly. The sigmoidoscope has a camera on the end of it that gives video feed to a monitor that the doctor views. Lastly, the doctor examines the lining of the bowel while slowly removing the scope. If necessary, they can insert forceps through an empty channel in the sigmoidoscope to take a tissue sample for biopsy. The entire procedure usually takes around 15 minutes.

Post-procedure

Following the procedure, patients can expect some mild abdominal discomfort, cramping and bloating for a few hours. Since the procedure is fairly non-invasive, you can return to your normal and activity level immediately. If a biopsy was performed, you may experience some light rectal bleeding from the site of the tissue sample. If the bleeding is persistent, or if you develop a fever of 100 degrees Fahrenheit or higher, contact your doctor. 

Your doctor will give you post-exam instruction on home care. They will also discuss the results with you. A negative test is when no abnormalities are found during the procedure. If your doctor finds any polyps or other issues during the exam, it is a positive test. This may lead to further testing, including a full colonoscopy. If a biopsy has been performed, the results are usually available after a few days and are communicated to you by your doctor. 

Our experienced team at GHP has years of experience performing flexible sigmoidoscopies. 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.

 

What is Colorectal Cancer?

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Colorectal cancer refers to a cancer that starts in the colon or rectum. While cancers that start in either place may be called colon cancer or rectal cancer, respectively, they are often known collectively as colorectal cancer because of similarities between the cancers. 

Here’s what you need to know about colorectal cancer. 

Causes and Risk Factors

Scientists are not exactly sure what causes colorectal cancer. We do know that colorectal cancer begins when healthy cells’ DNA mutates. These cells can then overgrow and divide, creating tumors. Cancerous cells can also destroy healthy tissue and travel to other parts of the body and form deposits. However, there are several well-documented risk factors. These include being over 45, having diabetes, smoking, drinking alcohol, having a high-fat diet, having an inflammatory bowel disease, and having a family history of colon cancer or polyps. 

Types

Most colorectal cancers (around 96%) are Adenocarcinomas. This kind of cancer starts in mucus-producing cells which lubricate the colon and rectum. 

There are a few other kinds of colorectal cancers that are much more rare. Lymphomas, cancers of immune system cells, can start in the colon or rectum (although they typically start in lymph nodes). Carcinoid tumors start from hormone-producing cells in the intestine. Gastrointestinal stromal tumors start from cells in the colon wall, and while most are non-cancerous, some can be. 

Symptoms

It’s common for colorectal cancers to have few symptoms until they have advanced. There are some potential warning signs, but they may be indicators of other issues. These symptoms include lower abdominal pain, blood in stool, bloating, cramps, vomiting, unexplained weight loss, and changes in bowel functions. As always, it’s best to consult a medical professional to determine what your symptoms are caused by. 

Diagnosis

The best way to cure colon cancer is to identify it at an early stage. However, since symptoms may not present early on, doctors recommend screenings for healthy people, usually beginning around age 50. People with more risk factors, as discussed above, may be advised to be screened at a younger age. 

A colonoscopy is one of the most common methods of screening. This involves using a scope to examine the inside of the colon. Your doctor can pass tools through the scope to take tissue samples if they see something suspicious. Biopsies of these tissue samples can help determine if cancer is present. Doctors also may remove polyps found during a colonoscopy to prevent them from becoming malignant. 

Treatment and Prevention

There are three main treatments for colorectal cancer- surgery, chemotherapy, and radiation therapy. These three treatment options are often used together in various combinations, depending on a patient’s situation. The best treatment options for each person depends on factors including overall health, the cancer’s stage, and whether the cancer is recurring. 

Localised, small, early-stage cancer in a polyp can be removed during a colonoscopy. A more invasive surgical procedure called a partial colectomy can remove the cancerous area of the colon and some surrounding healthy areas. This can prevent the cancer from growing back. Lymph nodes near the surgical site are removed and tested. Surgery can also be pursued to relieve symptoms and provide comfort for people in very poor conditions. 

Chemotherapy is another treatment option, often used after surgery to destroy remaining cancer cells. If the cancer has spread beyond the colon lining, this may be recommended. 

Radiation therapy utilizes beams of intense energy to destroy cancer cells. Radiation may be utilized before surgery to reduce tumor sizes, or after surgery to kill off remaining cancer cells. 

Preventing colorectal cancer is extremely important, and it starts with screening (as discussed above). Additionally, you can reduce your risk of developing colorectal cancer by avoiding smoking, reducing or avoiding alcohol consumption, staying active, maintaining a healthy weight, and eating a healthy diet. 

Our experienced team at GHP has years of experience helping people manage and treat colorectal cancer. 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.

 

 

What is Infusion Therapy?

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When people become severely sick or weighed down by compound disease conditions, oftentimes they have difficulty swallowing. This can make seemingly simple things like eating, drinking and taking medications difficult.

Additionally, certain medications may not be recommended orally since an individual’s stomach acids may affect their quality, rendering them ineffective when it comes to treating diseases.

There are many reasons why people may receive medication through their body instead of their mouth (orally).

What is Infusion Therapy?

Infusion therapy is an alternative to oral treatment that entails the administration of drugs or medicine through a sterile catheter or needle. These are often introduced into a patient’s vein and secured by a professional healthcare provider. This treatment option has been used for a long time by hospitals.

Increasingly, infusion therapy is also applied in outpatient healthcare settings and community care centers, by specialized nurses who are professionally trained to carry out this procedure. At Gastroenterology Health Partners, our outpatient infusion center is available to patients in a convenient and higher quality setting, with no wait time and ample appointment availability. Depending on one’s insurance carrier and plan, this procedure can often be done at a lower cost, with the benefit of getting to know the same infusion RN over time.

What Medical Conditions Does Infusion Therapy Treat?

Infusion therapy is primarily used to treat severe or chronic diseases and infections that may not respond to oral antibiotics. There are many examples of disease conditions and infections that are treated continuously using infusion therapy. This includes different types of cancers, gastrointestinal tract infections, Crohn’s disease, ulcerative colitis, and inflammatory bowel disease.

An Overview of What to Expect with Outpatient Infusion Treatment

There are a couple of factors that you need to expect with outpatient infusion treatment or therapy.

The infusion process typically lasts for an hour, but this does vary. The time taken during this therapy is based on the type of medication administered and also the kind of illness or infection being treated. While some medicines require more extended periods of infusion, others take a short time.

Dosage also dictates the length of infusion. In some cases, patients receive their infusion dosage slowly, especially for their first time. Whereas for others, it may take a longer length of time. This may be done to confirm that a patient doesn’t develop adverse reactions to the medication offered via infusion.

Prior to the administration of infusion therapy, there is also some preparation. This might involve recording a patient’s blood pressure, weight, height, and body temperature.

Prior to infusion therapy your doctor might ask you to prepare by drinking a specific amount of water. You may also be advised to wear comfortable clothing for the procedure.

As an infusion patient, you have a choice in deciding a location for your infusion therapy. Cost and convenience are critical to this decision.  GHP offers the convenience of this service to its patients at a cost which is far lower than an inpatient setting. Contact any of our office locations to reach a dedicated infusion therapy concierge to confirm options available to you based on your specific health plan.

October’s MD Update: Dr. Jones Speaks “Going on Offense Against Cancer”

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Our very own Dr. Whitney Jones graced the cover of MD-Update’s October issue.  Read about how he embraces preventative measures to beat colon cancer before it starts in the following article.

“We spend a lot of money on healthcare and health insurance. The problem is, we’re not spending enough on prevention.”— Whitney Jones, MD

 In the movie “Karate Kid,” there’s a scene where Mr. Miyagi asks the title character if he’s training to fight. In his light bulb moment, the student responds that he trains, “So I won’t have to fight.”

Make no mistake, Whitney Jones, MD, knows how to treat cancer. He’s trained for it and has years of experience in it. But it’s a fight he would prefer doesn’t take place.

“We’re going on offense against cancer,” says Jones, a gastroenterologist at Gastroenterology Health Partners (GHP) in Louisville. “We are working on becoming the number one state and the first in the nation to develop programs where we can use genetic testing. We spend a lot of money on healthcare and health insurance. The problem is, we’re not spending enough on prevention. The cost of cancer treatments totally overwhelms the cost of prevention.”

That has been the central message and purpose of the Kentucky Colon Cancer Prevention Project, which Jones helped found in 2004. The project’s work includes education, advocacy, survivor support, and health system change.

“It put the work of the state in front of the legislature,” Jones says, noting that a diverse group of leaders from across the state formed the project’s advisory committee. “It added a mix of healthcare, politics, and business that was catalytic.”

The project has received state funding as well as additional funding from the Kentucky Cancer Foundation, which Jones also helped found in 2012. “We have helped pay for a lot of uninsured people to get colorectal cancer screening,” Jones says.

The impact of the Colon Cancer Prevention Project is reflected in the state’s improvement versus the rest of the country. Jones notes that Kentucky ranked 49th out of 50 in the nation in colon cancer prevention statistics when the project was launched. The state also had the highest rates of incidence and mortality in the nation. Earlier this year, Kentucky ranked 17th best in the nation in the same colon cancer related categories and earned an American Cancer Society Achievement Award for the most improved state in the nation for colorectal screening over the past 15 years.

“When we started our work at the Colon Cancer Prevention Project, there was a huge gap between what could be done and what we were doing,” Jones says. “It’s been a broad coalition, including many of our state leaders and city officials. I think it’s proven that Kentucky can address its own problems, we can develop solutions, we can implement them locally, and we can save lives and save money.”

Read the full article here:

Common Causes of Constipation

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Constipation is often defined by tough, hard to pass bowel movements that occur infrequently. Other signs and symptoms include bloating, having the sensation of an incomplete evacuation, abdominal pain and blood present in the stool.

While constipation is known for being both physically uncomfortable and embarrassing, the condition is more common than one might think. Constipation affects approximately 30 percent of the general population, and is most prevalent in women, children and the elderly. Persistent constipation should not be ignored as it could be the sign of a more serious condition, such as colon cancer or Irritable Bowel Syndrome (IBS).

What are some of the Common Causes of Constipation ?

Dehydration

“If you don’t have enough water in your body already, the large intestine soaks up water from your food waste,” making for harder to pass stools. Caffeine can cause dehydration, and even dairy has been known to constipate some people. Proper hydration however, can help move food through the intestines and create softer stools.

Lack of Fiber

Fiber encourages regular bowel movements by allowing more water to remain in your stool and hastening it’s passage through the gut. Foods like fruits, vegetables, whole grains, beans and nuts are the best natural source of fiber. However, fiber supplements can be helpful as well.

Stress

Just like most of your bodily functions, the nervous system is in constant communication with your digestive system. During periods of intense stress, the digestive system can slow down resulting in constipation. Waiting too long to go to the bathroom for example, can cause a build up.

Not Enough Physical Activity 

Regular activity helps to stimulate the muscles in intestines and can also help alleviate stress.

Medication

Though laxatives can help ease constipation, they can also become habit forming meaning that one’s bowel movements end up depending on them. Overusing laxatives can over time can weaken the bowel muscles. Additionally, many anti-depressants and pain medications are common causes of constipation. It is recommended that any and all medications should be discussed with your doctor.

While many lifestyle changes can help to relieve constipation, if you experience chronic constipation, schedule an appointment with one of our fellowship-trained gastroenterologist today.