J. David Schmidt, Author at Granite Peaks Gastroenterology of Utah

What is Lynch Syndrome?

Posted on April 2, 2019March 28, 2022 by J. David Schmidt

Lynch Syndrome is also known as hereditary non-polyposis colorectal cancer. It is the most common cause of inherited colorectal cancer accounting for 3% of all newly diagnosed cases of colorectal cancer and 3% of endometrial cancer. Colorectal cancer is the 2nd leading cause of cancer-related death in the United States.

Lynch Syndrome refers to patients and families with a genetic mutation in one of the DNA mismatch repair (MMR) genes. It is seen in approximately 1 in 279 people in the population. As we age, errors in DNA replication tend to occur more frequently resulting in abnormal genes being produced which produce abnormal function in the body. The role of the DNA mismatch repair system is to maintain correct DNA base pairs and prevent abnormal gene expression that leads to conditions such as cancer. Microsatellite Instability (MSI) is when regions of repetitive DNA sequences fail to be repaired correctly. This is a characteristic of tumors in Lynch Syndrome. However, 15% of sporadic (non-inherited) colorectal cancers demonstrate MSI.

The major clinical manifestation of Lynch Syndrome is colorectal cancer (CRC). Patients with this condition may be asymptomatic or may have worrisome symptoms such as abdominal pain, blood in their stool, or a change in the pattern of their bowel habits. The lifetime risk of colorectal cancer for Lynch Syndrome varies but can be as high as 47%. Colorectal cancer in Lynch syndrome tends to occur at a younger age (45-60 years) compared to sporadic colon cancer (69 years). Patients with Lynch Syndrome are at risk for more than one location of colon cancer developing at the same time (synchronous) and developing colon cancer again after the initial cancer is found and treated (metachronous). Seven percent of patients have more than one cancer at the time of diagnosis. The cancers that develop in Lynch Syndrome tend to occur in a different location in the colon compared to sporadic CRC, the right side of the colon also known as the proximal colon. These polyps tend to be large, flat and more aggressive. In Lynch Syndrome, the time it takes a polyp to develop into cancer is relatively short (35 months) compared to sporadic CRC (10-15 years).

Other Cancer Types Associated with Lynch Syndrome

Lynch Syndrome is also associated with diseases outside of the colon; the most common is endometrial (uterine) cancer. Other cancers that are associated with Lynch Syndrome include ovarian, stomach, small bowel, bile duct, ureter, brain (gliomas) and sweat gland tumors (sebaceous neoplasms). A rare condition called Muir-Torre syndrome is a variant of Lynch Syndrome and is characterized by sebaceous tumors.

Lynch Syndrome Diagnosis

The diagnosis of Lynch Syndrome can be challenging and is therefore often overlooked. Different strategies for identifying individuals at risk for the condition consider family history, prediction models, tumor-based testing (which includes MSI testing), and genetic analysis. The Amsterdam I criteria are frequently used and can be simplified by using the “3-2-1 rule.” Patients at risk for Lynch Syndrome will have 3 or more relatives with Lynch Syndrome-related cancers including a first degree relative, 2 generations are affected by Lynch Syndrome related cancers, and 1 or more cancers were diagnosed before age 50 years. Other systems have been proposed for identifying patients at risk; one is known as the Bethesda guidelines.

Lynch Syndrome should be suspected when a patient meets certain criteria. Those criteria include identifying more than one CRC at the time of diagnosis, identifying a second CRC in the same individual over time, diagnosing CRC at an age less than 50 years, or identifying multiple Lynch Syndrome-related cancers (see above). In order to reach a definitive diagnosis of Lynch Syndrome, an abnormal genetic mutation in the mismatch repair gene (MMR) must be identified.

Individuals who may be candidates for genetic testing include the following:

– All newly diagnosed CRC

– Endometrial (uterine) cancer diagnosed before age 60 years

– First degree relative with known MMR/EPCAM genetic mutation

– Newly diagnosed CRC and an elevated risk based on prediction models

– Family history meeting above Amsterdam-type criteria

This overview of the Lynch Syndrome focuses on what defines the syndrome and who should be considered for additional testing.

If you have questions about your GI health or how hereditary gastrointestinal conditions may play a part in your overall health picture, contact the gastroenterologists at Granite Peaks Gastroenterology in Sandy or Lehi for answers.

Diagnosing Celiac Disease

Posted on October 9, 2018June 26, 2019 by J. David Schmidt

By J. David Schmidt, MD

UPDATED 10/9/2018

Celiac disease is an autoimmune digestive disease that damages the villi of the small intestine and interferes with absorption of nutrients from food. The consumption of gluten aggravates the small intestine creating chronic inflammation. Gluten is found primarily in wheat, barley, rye, and in foods such as pizza, pasta, cereal, as well as some unlikely places like salad dressings, ketchup, BBQ sauces, supplements and medications.

If left untreated, people can develop further complications such as anemia, vitamin deficiencies, osteoporosis and cancer. For celiac patients, the villi—tiny finger-like projections in the small bowel—get worn down or blunted and become ineffective in absorbing nutrients. A lack of certain nutrients can have detrimental effects; for example, a lack of iron can result in anemia or a deficiency in vitamin D can lead to osteoporosis or even neurological dysfunction.

When a celiac patient is exposed to gluten, it is damaging the body, long term. That is why it is so important to diagnose as early as possible. Some of the outward symptoms of someone with celiac may include diarrhea, bloating, upset stomach, fatigue, headaches and constipation, among others. The disease can be asymptomatic as well. The symptoms can also overlap with or mimic other conditions such as lactose intolerance or irritable bowel syndrome. It is estimated that 83% of Americans who have celiac disease are undiagnosed or misdiagnosed with other conditions.

Testing for Celiac

Testing for celiac involves two blood tests that measure antibodies, the immune response to gluten. These tests are over 95% accurate. If test results are positive, an upper endoscopy procedure (EGD) is then performed to secure a small biopsy of the small intestine to confirm the diagnosis and determine the extent of damage/severity of the disease. An accurate diagnosis is very important as patients need to change their eating habits for the rest of their lives.

It is possible that if one person in the family has celiac disease, there will be other relatives who also have it or who have been diagnosed with another autoimmune disorder such as Rheumatoid Arthritis, Type 1 Diabetes, or a thyroid condition. Genetically, up to 40% of Caucasians have one or both genes that are associated with celiac disease.

When I am talking with the patient in the office, I listen for clues, such as a family history of a sensitive stomach or food allergies or other autoimmune diseases. This knowledge helps me sift through the symptoms that, at first, may seem like Irritable Bowel Syndrome, or ulcers, Crohn’s disease or even gallbladder problems. Following up on this information can help get to the correct diagnosis quickly.

Once diagnosed, I reassure my patients that living a gluten-free lifestyle is not nearly as tricky as it used to be. Now grocery stores and restaurant menus abound with gluten-free options. Plus plenty of naturally occurring gluten free foods offer healthy options, such as vegetable, fruits and meat.

Learning to eat at home, school and at restaurants can be a challenge, but the evidence is clear. Celiac patients must be vigilant about their diet and treatment. Regardless of whether gluten seems to upset your stomach or not, it is important to follow a gluten-free diet if you are diagnosed with celiac disease. Your health is too important and there are many good choices available to help you succeed. Make the right choices for your good health. A lot is at stake!

Eosinophilic Esophagitis Symptoms, Diagnosis and Treatment

Posted on October 24, 2017April 18, 2019 by J. David Schmidt

By Dr. J. David Schmidt

Eosinophilic esophagitis (EoE) is an allergic condition of the esophagus that affects both children and adults. Initially described in the 1960 and 1970s, the incidence rate has increased dramatically. Regional variations across the United States and globally show a higher prevalence of EoE in cold and arid climates compared to tropical climates. There is also a strong association between EoE and allergic conditions such as food and environmental allergies, asthma, and allergic/atopic dermatitis.

EoE Symptoms and Diagnosis
Adults with Eosinophilic Esophagitis frequently report chest pain, difficulty swallowing food, getting food stuck in the throat/esophagus while eating, heartburn, or upper abdominal pain. The condition is suggested by these symptoms; however, in order for the correct diagnosis to be established, an upper GI endoscopy is required. This procedure, known as an EGD or esophagogastroduodenoscopy, is a safe and short procedure performed under sedation where the esophagus and stomach are examined visually and biopsies can be taken. During the procedure, scar tissue rings that can form as a result of the allergy can be stretched or dilated. This is one of the treatments for the condition. It is also recommended that patients with eosinophilic esophagitis be evaluated/treated by an allergist or immunologist.

EoE Treatment
Treatment of eosinophilic esophagitis includes dietary modifications, medication trials, and endoscopic dilation. Traditionally, a six-food elimination diet (SFED) has been recommended. Foods to be eliminated include milk, egg, soy, wheat, peanuts/treatments, and fish/shellfish. Recent reports have suggested a four-food elimination diet is highly successful for most patients who opt for dietary management. This diet eliminates milk, egg, wheat, and legumes. Medical therapy includes treatment with topical corticosteroids either liquid or aerosolized preparations that deliver medication directly to the esophagus. This approach is reserved for patients after a two-month trial of acid-reducing medication with a PPI such as omeprazole. Endoscopic dilation of strictures or scar tissue is effective for relieving difficulty swallowing but has no effect on the underlying inflammation.

Eosinophilic esophagitis is a chronic condition that requires either continued diet restrictions or medical and endoscopic management. For further information, please discuss your symptoms and concerns with your gastroenterologist.

Diagnosing and Treating
Irritable Bowel Syndrome (IBS)

Posted on April 11, 2017April 18, 2019 by J. David Schmidt

By J. David Schmidt, M.D.

Irritable Bowel Syndrome (IBS) represents a group of symptoms that cause a significant number of people to seek medical attention every year. It is estimated that 10-15% of North Americans suffer from IBS, and it is by far the most commonly diagnosed gastrointestinal condition. Irritable Bowel Syndrome is the second most common medical reason to miss work, after the common cold.

The specific symptoms of IBS vary widely among those who suffer from the condition, but the hallmark is a pairing of chronic abdominal pain and altered bowel habits. The abdominal pain may range from mild to severe. It may be associated with factors such as stress and eating. The bowel changes may include diarrhea, constipation, or alternating back and forth between both. There is also a sub-type called post-infectious IBS that develops after a gastrointestinal infection. According to the most current literature, IBS is defined as recurrent abdominal pain at least one day per week in the last three months, on average, and associated with two or more of the following:

- • Improvement with bowel movements

- • Associated with a change in stool frequency

• Associated with a change in stool form or appearance

The following symptoms are NOT consistent with IBS and are reasons to see a gastrointestinal specialist:

- • More than minimal bleeding

- • Weight loss

- • Iron deficiency anemia

- • Nocturnal symptoms

• Family history of colorectal cancer, inflammatory bowel disease, or Celiac sprue

The initial treatment of Irritable Bowel Syndrome includes dietary modifications such avoiding foods that contain lactose and gluten, as well as gas-producing foods. A low FODMAP diet is also a consideration as initial therapy. Pharmacologic (drug) therapy for IBS depends upon the troublesome symptoms. IBS with constipation is treated with increased dietary fiber as well as psyllium and prescription laxatives. IBS with diarrhea can be treated with OTC anti-diarrheal medications such as Imodium. Other options include prescription medications such as bile acid sequestrants and serotonin receptor blockers. Gas and bloating can be treated with antispasmodic medications. or even GI-selective antibiotics.

Due to the many different symptoms of IBS, there is a wide range of treatment options including dietary, behavioral, and medical therapies. It is important to discuss your symptoms and family history with your medical provider so that appropriate evaluation may take place. Ultimately, IBS is a very common but treatable condition.

Learn more about Irritable Bowel Syndrome (IBS) or click here to schedule an appointment with a Granite Peaks gastroenterologist.