Celiac Disease


Article Author:
Ewa Posner


Article Editor:
Muhammad Haseeb


Editors In Chief:
David Wood
Andrew Wilt
Hajira Basit


Managing Editors:
Avais Raja
Orawan Chaigasame
Khalid Alsayouri
Kyle Blair
Radia Jamil
Erin Hughes
Patrick Le
Anoosh Zafar Gondal
Saad Nazir
William Gossman
Hassam Zulfiqar
Navid Mahabadi
Hussain Sajjad
Steve Bhimji
Muhammad Hashmi
John Shell
Matthew Varacallo
Heba Mahdy
Ahmad Malik
Abbey Smiley
Sarosh Vaqar
Mark Pellegrini
James Hughes
Beenish Sohail
Hajira Basit
Phillip Hynes
Sandeep Sekhon


Updated:
12/7/2018 5:54:40 AM

Introduction

Celiac disease is an enteropathy of the small intestine. It is triggered by exposure to gluten in the diet of susceptible people. The susceptibility is genetically determined. The condition is chronic, and currently, the only treatment consists of permanent exclusion of gluten from the food intake.[1][2][3]

Etiology

The symptoms of celiac disease are due to the damage of enterocytes in the small intestine. In the full-blown clinical picture, the typical features of the small intestine are chronic inflammation and villi atrophy. [4][5][4]

An individual has to have HLA dominant DQ2 or DQ8 genes. The disease is a result of the immune system reacting adversely to gluten, and one of the important proteins involved is an antibody to tissue transglutaminase. There are however other pathways proposed that contribute to the disease. A glycoprotein gliadin (present in gluten) has a direct toxic effect on enterocytes by the up-regulating production of IL-15.

Some studies indicate that gastrointestinal infections in early childhood are relevant to the development of celiac disease later in life. This is not surprising considering the organ affected, but it is likely that is also directly relevant to the fact that celiac disease is caused by a disorder of immune function.

Epidemiology

The prevalence of celiac disease in the general population is about 0.5 % to 1%. Both true prevalence, as well as detection and diagnosis, have increased over the past 10 to 20 years. The incidence is greater among people with autoimmune disorders like type 1 diabetes. In first-degree relatives of people affected by celiac disease, the risk is 1 in 10.

Pathophysiology

A peptide derived from gluten called gliadin causes damage to the small intestine. There is local inflammation, and the process leads to the destruction of the small intestinal villi. This destruction, in turn, leads to the decreased functionality of the intestinal surface and malabsorption. The lack of nutrient absorption impacts directly on the digestive system but also indirectly on all the systems of the body. This impact results in generally poor health and is the reason why celiac disease can have signs and symptoms arising from almost any system of the body, not just the gastrointestinal system.[6]

Toxicokinetics

There has been long-standing doubt about the toxicity of oats for a patient with celiac disease. Recently, studies have shown that oats are not harmful, and any doubts were likely because it is commonly processed together with wheat and therefore, cross-contamination was very high.

History and Physical

The common symptoms are lethargy and diarrhea hence the name celiac sprue. Other gastrointestinal symptoms are abdominal distension, discomfort or pain, vomiting, and constipation. In childhood, failure to thrive is an important aspect of the history, while in adulthood the corresponding symptom would be unexplained weight loss. Symptoms from other than gastrointestinal systems include recurrent aphthous ulcers in the mouth, iron deficiency anemia, ataxia, chronic headaches, and delayed menarche. The incidence of some obstetric complications such as, preterm labor, growth restriction, and stillbirth in women with the untreated celiac disease is higher.

Dermatitis herpetiformis is a skin condition caused by gluten intolerance, and just like the enteropathy it usually responds to the exclusion of gluten from the diet.

Evaluation

Diagnostic workup usually starts with serological tests. The two antibodies measured are anti-tissue transglutaminase antibodies (by enzyme-linked immunosorbent assay or ELISA measured numerically) and anti-endomysial antibodies that are usually reported as negative, weakly positive or positive. Traditionally, the next step and the gold standard for the diagnosis is duodenal mucosal biopsy; in celiac disease, this shows villous atrophy. It is important that these tests be performed while the patient is on a regular, gluten-containing diet.[7][8]

Another useful test is for human leukocyte antigen (HLA). Specific HLA genotypes have been strongly associated with celiac disease. HLA testing can be used in the diagnostic process. For example, Joint BSPGHAN and Celiac UK guidelines published in 2013 indicates that positive serological tests with positive HLA typing in the presence of typical symptoms can be accepted as confirmative of diagnosis without a need for biopsy.

Treatment / Management

It is recommended that all people diagnosed with celiac disease follow a strict gluten-free diet. This adherence is best done under the supervision of specialists, including a dietician. In general, symptoms improve on the gluten-free diet within days to weeks. Unresponsive patients need further review of the diagnosis but also an assessment of compliance with the diet. Serology testing can assess the compliance. Non-compliance can be unintentional in an individual who may be still ingesting gluten without realizing it.[9][10]

Other tests include looking at the impact of malabsorption (due to celiac disease). The following can be monitored: full blood count, iron stores, folate, ferritin, levels of vitamin D and other fat-soluble vitamins, and bone mineral density.

Management of patients with positive serology but no abnormal findings on biopsy on duodenal biopsy is controversial. There are many situations when the diagnosis is not clear-cut. Some patients experience relevant symptoms in spite of no identified changes on small gut biopsy. There is also seronegative celiac disease. This term describes the reverse situation when in spite of typical symptoms there is not serological evidence of the disease, but there is significant villous atrophy of duodenal biopsy.

Currently, the only recommended treatment for celiac disease is the gluten-free diet. This makes a significant impact on lives of people affected and can be challenging to maintain. There is continuous work on possible non-dietary therapies that enable people with celiac disease to tolerate gluten. One of the main focuses of the research in this area is immune modulators. Other approaches, like immunizations or ingesting substances that would change the toxicity of gluten are also being explored. However, none have reached the stage of being recommended or approved for such therapy.

Differential Diagnosis

  • Bacterial gastroenteritis
  • Crohn disease
  • Giardia
  • Irritable Bowel syndrome
  • Malabsorption
  • Viral gastroenteritis

Complications

There is a risk of lymphomas and small bowel adenocarcinomas of the small bowel in the long run.

Pregnant women may have a miscarriage and/or have an infant with congenital birth defects

Short stature and failure to thrive can occur in children

Failure to absorb the nutrients can lead to the following:

  • Osteopenia
  • Bleeding diathesis
  • Stunted growth
  • Anemia
  • Lack of exercise endurance
  • Seizures

Postoperative and Rehabilitation Care

Once the diagnosis of celiac disease is made, patents need regular follow up to ensure that they are compliant with a gluten-free diet and not developing any complications.

Deterrence and Patient Education

Patient should remain compliant with a gluten-free diet

Pearls and Other Issues

The untreated coeliac disease leads to chronic ill health and complications. Secondary lactose intolerance is common. There is increased the risk of osteoporosis, epilepsy, infections and bowel cancer and jejunal lymphoma. Lack of calcium leads to problems with dentition.

Because celiac disease is an autoimmune disease, many clinicians recommend that all patients with celiac disease should also be screened for type 1 diabetes and thyroid function problems. This screening is recommended because similar autoimmune disturbances are at the root of these disorders and therefore, there is increased the risk of these disorders in people who share the common genetic background.

Enhancing Healthcare Team Outcomes

The number of cases of celiac disease has gone up in the last three decades. In fact, the disease is initially often mistaken for irritable bowel syndrome, and the diagnosis is delayed for months or years. Celiac disease can have significant complications if it is not treated and hence, a multidisciplinary approach to diagnosis and treatment is necessary. If the disorder is suspected a gastroenterologist should be consulted. Once the disease is confirmed, patients are generally managed as outpatients. Nurses play a vital role in the monitoring of these patients for complications and compliance with diet. Children will need to be monitored for stunted growth and failure to thrive.[11][12] (Level V)

Several national guidelines have recommended a multidisciplinary approach to celiac disease as it can involve many organs in the body.

Comprehensive nutritional management is required with a multidisciplinary approach to treatment. The nurse should monitor patients for refractoriness to treatment because these patients may require corticosteroids. In addition, all healthcare workers who look after celiac patients should be aware that the disorder can cause lymphomas and adenocarcinomas of the intestine at some point. Further, celiac disease is also associated with psychiatric illness, depression, and infertility.[13] (Level V)

Outcomes

The prognosis for patients who are diagnosed early and remain compliant with their gluten-free diet is excellent. However, there are some patients who do not respond well to a gluten-free diet, and they may require steroids. The prognosis for these patients is guarded.[14][15]


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Celiac Disease - Questions

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A patient with persistent diarrhea and foul smelling stools is found to be positive for anti endomysial antibody. What is the diagnosis?



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What part of the small intestine is affected by celiac disease?



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Celiac disease is RARE in what population?



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Which type of skin lesion often occurs in patients with celiac disease?



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Which type of anemia is common in patients with celiac disease?



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In patients with celiac disease, which movement disorder is very frequently described?



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What disorder is often associated with individuals who have celiac disease?



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What is the most common non-autoimmune syndrome associated with celiac disease?



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Which infection occurring in infancy has been linked to a higher risk of developing celiac disease?



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What malignancy is most common in patients with chronic celiac disease?



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A 27-year-old patient is found to have diarrhea, weakness, and signs of malabsorption. Endoscopy reveals flattened mucosa and presence of antigliadin antibody. The patients are prone to develop what disorder in the long run?



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A patient presents with recurrent episodes of abdominal cramps, malabsorption and diarrhea. Biopsy reveals the presence of shortened small intestinal villi, chronic mucosal inflammation, and elongation of crypts. What is the most likely diagnosis?



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What disease often presents with the absence of intestinal villi?



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What are typical findings on biopsy of a patient with celiac gluten sensitivity?



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An female is seen in the clinic because of general fatigue and joint pains. She says that for the past 2 years she has had pain in her back, neck and hip joints. This pain does not seem to be affected by rest or activity. She says she was diagnosed with celiac disease 10 years ago and has strictly adhered to a gluten free diet. Which of the following bone and joint disorders is not associated with celiac disease?



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Which of the following is associated with primary T-cell lymphoma of gastrointestinal tract?



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The primary T cell lymphoma of the gastrointestinal tract can be caused by which disorder?



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Which of the following is NOT a feature of celiac disease?



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Lymph node biopsy in a 35-year-old reveals a large infiltrate of small round uniform looking lymphocytes. Cytometry is being done to determine the type of lymphoma. Which of the following disorders may be the cause of this pathology?



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Which disease has an increased risk of small bowel lymphoma?



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Which is the appropriate diet in a patient with celiac disease?



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Which of the following causes of chronic diarrhea would present with failure to thrive?



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Which of the following investigations help to make a diagnosis of celiac disease?



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Which of the following food products is suitable for patients with celiac disease?



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Which of the following would cause symptoms in an individual with celiac disease?



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What is the most common gastrointestinal symptom in celiac disease?



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A child has symptoms of diarrhea and failure to thrive. He is diagnosed with celiac disease. What is the etiology of celiac disease?



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Which of the following is a complication of celiac disease?



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Paucity of small bowel folds in the jejunum on enteroclysis is pathognomonic of which of the following?



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Which is not a complication of celiac disease?



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What type of food is to be avoided in a patient with celiac disease?



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A 17 year old male presents with chronic fatigue and a history of a few weeks of mild diarrhea. After appropriate investigations that included small bowel biopsy he is diagnosed with celiac disease and gluten free diet is recommended. He returns for review 6 weeks later but his symptoms are not better. What is the most likely reason for the lack of improvement?



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Which of the following needs to be considered in a 6-year-old when there is a concern about poor growth?



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Which disease can be detected by the d-xylose test?



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A young female presents with a long history of diarrhea and abdominal cramps every time she eats. She states that for many years she has had foul smelling stools which are often oily. She has lost at least 15 pounds in weight over the past year and is constantly fatigued. Physical exam reveals a female with marked weight loss, peripheral edema, and systemic ecchymosis. Also positive is the Chvostek sign. Blood work reveals microcytic hypochromic anemia and IgA anti-tissue transglutaminase antibody. Based on current research, what infection during childhood may have predisposed her to develop this disorder?



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A young female presents with a long history of diarrhea and abdominal cramps every time she eats. She claims that for many years she has had foul smelling stools which are often oily. She has lost at least 15 pounds in weight over the past year and is constantly fatigued. Physical exam reveals a female with marked weight loss, peripheral edema, and systemic ecchymosis. Also positive is the Chvostek sign. Blood work reveals microcytic hypochromic anemia and IgA anti-tissue transglutaminase antibody. How long after starting a gluten-free diet will she improve?



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A young female presents with a long history of diarrhea and abdominal cramps. She states that for many years she has had foul smelling stools which are often oily. She has lost at least 15 pounds in weight and has been constantly fatigued over the past 12 months. Physical exam reveals a female with marked weight loss, peripheral edema, and systemic ecchymosis. Also positive is the Chvostek sign. Blood work reveals microcytic hypochromic anemia and hypocalcemia. What is the gold standard test for making a diagnosis of this disorder?



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A patient has been admitted with a diagnosis of celiac disease. While obtaining an admission history, which of the following symptoms will a patient most likely report? Select all that apply.



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A patient with celiac disease is being educated on dietary restrictions by the nurse. Which of the following foods should the patient avoid as part of a strict gluten-free diet? Select all that apply.



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Celiac Disease - References

References

Yu XB,Uhde M,Green PH,Alaedini A, Autoantibodies in the Extraintestinal Manifestations of Celiac Disease. Nutrients. 2018 Aug 20     [PubMed]
Clark R,Johnson R, Malabsorption Syndromes. The Nursing clinics of North America. 2018 Sep     [PubMed]
Sharma P,Baloda V,Gahlot GPS,Singh A,Mehta R,Vishnubathla S,Kapoor K,Ahuja V,Datta Gupta S,Makharia GK,Das P, Clinical, Endoscopic and Histological Differentiation between Celiac Disease and Tropical Sprue: A Systematic review. Journal of gastroenterology and hepatology. 2018 Aug 2     [PubMed]
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