Hereditary Diffuse Gastric Cancer: What You Need to Know

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HDGC, or Hereditary Diffuse Gastric Cancer, is an inherited condition that increases your risk of stomach cancer. Here’s what you need to know about the condition.

What is Hereditary Diffuse Gastric Cancer?

Hereditary Diffuse Gastric Cancer syndrome is passed down genetically. This condition causes signet-ring shaped cells to grow on the stomach wall. It can spread throughout the stomach, and it does not usually cause a mass. As a result, it is difficult to diagnose early on before symptoms occur with typical testing like an Upper Endoscopy. Later-stage symptoms of HDGC that can indicate the condition include weight loss, loss of appetite, vomiting, nausea, trouble swallowing, and stomach pain.

Only around 1-3% of all stomach cancers are HDGC, so this is a rare condition. It puts you at a higher risk of stomach cancer and lobular breast cancer. In particular, there is a higher risk of diffuse gastric cancer for people with the syndrome. Diffuse gastric cancer is a type of stomach cancer that tends to affect most of the stomach. Somewhere around 20% of stomach cancers are of this type.

Cancer risk for people in families carrying an HDGC gene is high. The risk of developing stomach cancer by age 80 is 67% for men and 83% for women. The lifetime risk for women with HDGC developing lobular breast cancer is around 20-40%.

Diagnosis

People with a family history of HDGC can receive genetic testing to identify gene mutations associated with the condition. There is no single gene mutation that indicates HDGC most of the time. In fact, in families with a strong history of diffuse gastric cancer, the most common gene mutation (CDH1) for this condition only accounts for around 30-50% of cases. In all cases of gastric cancers, CDH1 mutation only cause around 1-3% of cases. So, there are a particular set of circumstances that dictate whether genetic testing should be pursued. Family history has to be taken into account. The guidelines for testing for a CDH1 may include:

  • A diffuse gastric cancer diagnosis before age 35
  • A diagnosis of both diffuse gastric and lobular breast cancer
  • Over two cases of diffuse gastric cancer in a family
  • Multiple cases of diffuse gastric cancer in a family, with one or more diagnoses occurring before age 50

Reducing Cancer Risk

People with an HDGC diagnosis or confirmed CDH1 gene mutation have a few treatment options. Unfortunately, as alluded to earlier, early screening for HDGC is very difficult since the diffuse cancer involved is hard to detect. People with a CDH1 mutation may want to consider getting their stomach removed through a prophylactic total gastrectomy, as this is the only proven way to completely prevent diffuse gastric cancer. This is a significant surgery with long-term side effects, so you should discuss the option thoroughly with your doctor. If you do not want to pursue the surgery, intensive surveillance is another option. This involves an annual EGD (Esophagogastroduodenoscopy) with multiple mucosal biopsies. Additionally, women at risk of HDGC should consider early breast cancer screening starting at age 30. They may also want to consider biannual clinical breast examinations, monthly self-examinations, and frequent breast imaging tests.

Our experienced team at GHP has years of experience screening for and treating conditions including HDGC. 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 Anorectal Manometry?

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Anorectal Manometry is a procedure that measures the function of anal and rectal muscles. This test helps doctors measure function and pressure in sphincter muscles involved in bowel movements. Here’s what you need to know about the procedure.

When is Anorectal Manometry used?

Anorectal Manometry is used to help evaluate patients with fecal incontinence or constipation. As a type of manometry, it measures the coordination and force of smooth muscles. In particular, it can help evaluate the strength and coordination of sphincter muscles. In short, Doctors use Anorectal Manometry to investigate in cases of abnormal bowel movements. So, if you have difficulty passing stool, struggle with uncontrolled bowels, or experience constipation, your doctor may recommend Anorectal Manometry. Doctors also use Anorectal Manometry to assess anal and rectal muscles pre and post-surgery, investigate functional anorectal pain, and make differential diagnoses regarding anal pain.

Preparing for the Procedure

There are a few preparatory steps you need to take before an Anorectal Manometry. Your doctor will give specific instructions before the procedure. You should not eat or drink anything starting midnight the night before the test. Additionally, your doctor may ask you to take one or two enemas a few hours before the test to empty your bowels. You should also discuss any medications you are taking before the procedure. In particular, you should not take smooth muscle relaxants the day before the procedure.

During the Anorectal Manometry Procedure

Anorectal Manometry does not involve any sedatives. During the procedure, you will lie on your left side with your knees bent. Your doctor will slowly insert a small catheter (tube) through your anal sphincter to your rectum. The catheter has a balloon attached at the end. Once the balloon is in place, your doctor will attach the exposed end of the tube to a machine that inflates the balloon. Your doctor will then measure the muscle coordination and strength in your rectum and anal sphincter. You may be asked to squeeze, push, and relax at various points as they are performing the testing. The machine measures subsequent pressure changes in the balloon. Your doctor may also measure other things like rectal volume, sensation, and muscle reflexes. Once they complete measurements, your doctor will deflate the balloon and remove the catheter and balloon. The procedure takes around 30-45 minutes in total.

After the Procedure

Since no anaesthetic is used during the test, recovery is immediate. You can resume normal activities and diet. Your doctor will discuss their findings with you after the procedure. This can take some time depending on their findings.

Depending on the findings, your doctor may make some recommendations. These may include dietary changes, using certain medication, and muscle strengthening exercise. In some cases, surgery may be required.

Our experienced team at GHP has years of experience performing procedures including Anorectal Manometry. 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 and Age, Race, and Ethnicity

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Colorectal cancer is not experienced equally by everyone. In the past several years, younger people have experienced increased colorectal cancer rates and deaths. Additionally, Black people and American Indians experience more cases of this cancer and related deaths. Here’s what you need to know about how this disease affects different people.

Colorectal Cancer in Younger Adults

Rates of colorectal cancer have been on the rise for younger and younger adults over the last several years. According to the American Cancer Society, while rates for adults 50 and older have fallen due to increased screenings, the opposite trend has occurred for younger adults. Recently, people 65 and older have experienced a decrease of around 3% per year from 2011 to 2016. In contrast, people ages 50 to 64 have seen rates rise by 1% per year in the same time frame. People under 50 have actually seen rates rise by 2.2% per year in the same window. Clearly, younger adults are seeing steeper increases in cases. Death rates have followed similar patterns. Death rates for colorectal cancer also vary by age group. Between 2008 and 2017, death rates fell by 3% per year in people 65 and older and dropped by 0.6% in people 50 to 64. However, they rose by 1.3% in people younger than 50.

Fortunately, colorectal cancer can be very treatable if it’s caught early. Younger adults should be aware of warning signs. These include changes in bowel movements (particularly over two weeks or more), rectal bleeding, unusual stools, and tiredness or low energy. If they have any of these symptoms, they should see their doctor.

Disparities Based on Race and Ethnicity

Along with age, looking at colorectal cancer rates and death rates based on race and ethnicity shows significant variation. The American Cancer Society’s data from 2012-2016 showed that rates were dramatically different based on race. Rates for Asian people and Pacific Islanders were the lowest at 30 per 100,000. Non-Hispanic white people had a rate of 39 per 100,000, and Black people had a rate of 46 per 100,000. Alaska Natives and American Indians had the highest rate, at 89 per 100,000. Death rates vary significantly as well- colorectal cancer rates are around 20% higher for Black people than non-Hispanic white people, but death rates are nearly 40% higher in Black people. Additionally, for Alaska Natives and American Indians, death rates are about double the rate for Black people.

Early Screenings Save Lives

While many of these statistics are troubling, we do know that screening early is an effective way to catch more cases of colorectal cancer. More and more organizations, including Gastro Health Partners, are pushing for earlier screenings and research on the disparities around this disease. Early screenings save lives.

Our experienced team at GHP has years of experience screening for and treating 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.

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.