December 1-7 is Chron’s & Colitis Awareness Week. Given the prevalence of gastrointestinal disorders among patients with Turner syndrome (TS), increasing awareness of the symptoms and clinical indicators of autoimmune disorders is vital for proper management of TS. Early testing is also important for managing autoimmune conditions, so health care providers should be aware of the increased incidence of these conditions among patients with TS. Early screening and regular treatment should be offered. The Turner Syndrome Foundation (TSF) has resources to help!
Chron's & Colitis Awareness Week
According to the Chron’s & Colitis Foundation: “Crohn’s & Colitis Awareness Week was created in 2011 by U.S. Senate Resolution 199, ‘a resolution supporting the goals and ideals of Crohn’s & Colitis Awareness Week, December 1-7.’ Crohn’s & Colitis Awareness Week is designed to bring together the IBD community around a shared goal—to raise awareness and educate the public about IBD as part of our mission to see a future free of Crohn’s and colitis.”
Millions of people live with these gastrointestinal disorders. You likely know someone affected by one of these invisible and incurable diseases. Despite this, many do not fully understand these diseases (collectively known as inflammatory bowel disease or IBD) and how they impact daily life. Living with IBD means paying special attention to diet and nutrition and seeing a gastroenterologist and/or endocrinologist regularly. It is important to remember that these disorders are “invisible”–meaning you cannot tell someone is suffering from them just by looking at them.
That means that individuals with these conditions sometimes experience judgment and criticism. We never know what someone is going through on the inside!
People with TS are more prone to IBD, so let’s discuss the “3 Cs” of gastrointestinal disorders related to TS–Chron’s disease, colitis, and celiac disease.
Prevalence & Symptoms
Crohn’s Disease is an IBD that causes chronic inflammation of the bowel. It affects men and women equally and is estimated to affect 3 million people in the U.S. Most people are diagnosed between the ages of 20 and 30.
Genetics do play a contributory role in developing Crohn’s disease and other gastrointestinal disorders; however, family history alone is not predictive. Studies have shown that patients with TS are at a higher risk of developing IBD like Chron’s disease. There are different forms of Crohn’s disease affecting different parts of the bowel. Ileocolitis is the most common form; ileitis is another. Both can cause the same symptoms (see below).
Symptoms of Chron’s include diarrhea, cramping, significant weight loss, and pain in the middle to lower right of the abdomen. More severe cases could include fistulas (abnormal connections between an organ or blood vessel and another structure) and abscesses in the lower right abdomen. Gastroduodenal Chron’s symptoms include nausea, vomiting, loss of appetite, and weight loss. Another inflammatory condition called jejunitis can cause diarrhea and fistulas.
Diagnosis & Treatment
There is no single test to diagnose Crohn’s disease, and symptoms vary greatly from person to person and can mimic other conditions. Initial testing begins with minimally invasive techniques, including a physical exam, blood work, and a stool sample. Your physician may also recommend a colonoscopy, which involves inserting a tube with a small camera into the colon to examine it, or an endoscopy, which also uses a tube and camera to examine the GI tract. These procedures are normally performed on an outpatient basis.
Treatment options also vary from patient to patient, and it is important to discuss with your medical team which one is best for you. Medications that suppress your immune system can be effective in relieving symptoms. Also, avoiding spicy and high-
fiber foods can help alleviate flare-ups. Some patients also require surgery to preserve healthy parts of the bowel.
Prevalence & Symptoms
Ulcerative Colitis is a chronic inflammatory disease of the large intestine (colon or rectum). It is also an autoimmune disorder and not caused by diet or stress. Normally, the immune system is
designed to fight off foreign pathogens and protect the body from infection. However, autoimmune disorders occur when the immune system starts attacking itself. Ulcerative colitis is a result of the chronic inflammation produced by the exaggerated autoimmune response.
Colitis symptoms vary in severity and can be caused by inflammation, ulcers, and thickening of the intestinal wall. The most common symptoms include weight loss, rectal bleeding, bloody stool, fatigue, reduced appetite, and frequent diarrhea. Flare-ups or worsening symptoms can be caused by medication, stress, or food. According to a study published in 2018, patients with TS have a 30- to 60-fold increase in the incidence of ulcerative colitis compared to the general population.
Diagnosis & Treatment
While blood tests cannot diagnose ulcerative colitis, routine blood work is critical for proper management of the condition. These tests will keep track of inflammatory indicators and vitamin levels. Stool samples can also be used to determine inflammation. CT scans and X-rays can be used to diagnose ulcerative colitis and determine the location and severity of the disease. Endoscopy and colonoscopy can also be used to rule out other diseases like Crohn’s, which has similar symptoms.
Treatments can range from symptom management to those that target the underlying chronic inflammation that causes the symptoms. Other treatments work to repair the colon from the damage caused by colitis. Common medications to reduce
inflammation include antibiotics, anti-inflammatories, corticosteroids, and immune modifiers. Surgery may be required, but medication is typically the first course of treatment.
Prevalence & Symptoms
Celiac disease is a genetic disorder that causes an autoimmune reaction to gluten ingestion and damage to the small intestine. Gluten is a protein found in wheat, barley, rye, and sometimes oats. One in 133 people in the U.S. are affected by celiac disease. According to a 2002 study, an estimated 6% of women with TS also had celiac disease. One in 10 family members also have celiac disease, so there is indication of a hereditary component.
Physical symptoms of celiac disease include weight loss, diarrhea, bloating, vomiting, lactose intolerance, and white/foul-smelling stool. There can also be behavioral symptoms, including attention deficit disorder, anxiety, depression, memory loss, irritability, and brain fog. Oral symptoms include bad breath, gum disease, ulcers, mouth sores, and tooth enamel erosion.
Diagnosis & Treatment
A diagnosis of celiac disease begins with a simple blood test testing for antibodies against gluten. A definitive diagnosis is made through an upper endoscopy and small intestine biopsy. These tests generally only work, however, if the patient is still on a diet containing gluten. Screening for those at increased risk–family members of those diagnosed with celiac disease, those experiencing symptoms, and those with conditions like TS that increase the risk for celiac disease. There is also genetic testing available for celiac disease, although this is not diagnostic and merely suggests an increased risk. Many people with celiac disease are not diagnosed later in life, as the condition can manifest itself due to stress, illness, or trauma.
The most effective treatment for celiac disease is a strict, lifelong adherence to a gluten-free diet. This can both heal the damage to the small intestine and alleviate symptoms. Multivitamins can also be beneficial, as people with celiac disease may be at an
increased risk for fiber, iron, calcium, magnesium, zinc, folate, niacin, riboflavin, vitamin B12, and vitamin D deficiencies. Further research is being conducted on other treatment options for celiac disease.
For more detailed information about celiac disease and its relation to TS, see our May 2022 blog post.
What You Can Do
Managing Gastrointestinal Disorders
Given the increased prevalence of autoimmune and gastrointestinal disorders among patients with TS, it is important
to communicate with hour healthcare providers about any concerns or questions you or a loved one have regarding TS. You will likely need to see a gastroenterologist and/or endocrinologist, who can conduct regular screenings and recommend treatment plans.
If you are at increased risk, it may be necessary to screen earlier for autoimmune conditions. Having regular follow-ups can aid in early detection of disease and symptom management following a diagnosis. In addition to medications potentially recommended by a doctor, other important factors in symptom management include a healthy diet, regular exercise, and stress management.
A diagnosis of a gastrointestinal disorder, in addition to TS, can feel overwhelming. There are a wide variety of resources TSF offers that can help support and inform patients with TS and their families/caregivers. The private, online Star Sisters group holds monthly meetings that allow people affected by TS to connect, share their experiences, and build a supportive community. In addition, TSF sponsors the 24/7 Caregivers Group for those with loved ones affected by TS.
TSF also has a list of specialized treatment centers throughout the U.S. dedicated to the treatment of TS. These centers can greatly improve the health and lives of patients with TS through early diagnosis and treatment. Also, check out information about autoimmune diseases, including gastrointestinal disorders, on TSF’s website.
TSF also has a resource to help you find a doctor or specialist in your area. And, last but not least, TSF’s Professional Membership Program is an exclusive network that unifies practitioners who attend to the complex care of patients with TS. Professional
Chron’s & Colitis Awareness Week, Chron’s & Colitis Foundation
What Is Chron’s Disease?, Chron’s & Colitis Foundation
Ulcerative Colitis, Chron’s & Colitis Foundation
Turner Syndrome with Ulcerative Colitis, NIH/National Library of Medicine
What Are the Symptoms of Celiac Disease?, Gluten Dude
Celiac Disease Screening & Diagnosis, celiac.org
Celiac Disease Treatment & Follow-up, celiac.org
Written by Taylor Moore, TSF volunteer blog writer. Edited and designed by Susan Herman, TSF Blog Coordinator.
© Turner Syndrome Foundation, 2023