Celiac Disease (Coeliac Disease)

Definition[edit | edit source]

Biopsy of small bowel showing coeliac disease manifested by blunting of villi, crypt hyperplasia, and lymphocyte infiltration of crypts

A hereditary autoimmune disorder in which the mucosal lining of the small intestine becomes inflamed as a response to the ingestion of gluten, a protein found in wheat and other common food products. The result of the inflammatory reaction is blocked nutritional absorption by the small intestine.[1] It was first reported by Samuel Gee in 1888, however, gluten d a role in its pathology was only found in 1953. Gluten leads to enteropathy resulting in impairment of the mucosal surface and, consequently, abnormal absorption of nutrients.[2]

Prevalence[edit | edit source]

Celiac Disease affects primarily caucasians of northern European descent. It is thought to affect 1st degree relatives at a rate of 10%-20%.[1] The prevalence is estimated to be 1/300 Europeans and 1/250 Americans, with 70% of reported cases occurring in women.[1][3]

Characteristics/Clinical Presentation[edit | edit source]

Celiac Disease is commonly manifested in infancy or childhood, with the introduction of food products containing gluten.[1] However, it is not uncommon for the disease to manifest itself into early adulthood. Primary symptoms include diarrhea, chronic diarrhea, abdominal cramping, bloating, indigestion, weight loss, gastric ulceration, and reduced fertility for both men and women.[1][4] Secondary symptoms, due to malnutrition, include fatigue, depression, nausea, muscle atrophy, changes in bone mineral density, and joint pain. If the problem persists long enough without treatment, excessive nocturnal reabsorption of intestinal fluids can occur, causing nocturia (excessive night time urination).  In addition to nocturia, if the condition is severe enough, a gluten-related skin disorder may also be present (dermatitis herpetiformis)[5]. Celiac Disease is commonly found in adjunct with Diabetes, Down Syndrome, Turner Syndrome, William Syndrome, Sjogren Syndrome, autoimmune thyroid disorder, autoimmune hepatitis, congenital heart defects, and Addison Disease.[1][6]

Associated Co-morbidities[edit | edit source]

Co-morbidities for Celiac Disease include dermatitis herpetiformis, diabetes mellitus, pernicious anemia, dehydration, hypotension, lymphoma, bowel cancer, microscopic colitis, systemic lupus erythematosus, scleroderma, autoimmune hepatitis, primary biliary cirrhosis, and osteopenia/osteoporosis.[1][5]

Medications[edit | edit source]

Since the first line of treatment for Celiac Disease is to maintain a gluten-free diet, the disease can often result in vitamin and mineral deficiencies from a lack of ingestion of those nutrients from dietary sources.  Depending on which nutritional deficiency is present, a person may take over-the-counter supplements in order to meet personal daily nutritional needs. Hematinics may also be prescribed to stimulate red blood cell volume and to increase hemoglobin availability in order to address blood volume deficiencies. If primary means of treatment prove to be ineffective, corticosteroids can be utilized in order to reduce the inflammatory processes present in the small intestine. [1]

Diagnostic Tests/Lab Tests/Lab Values[edit | edit source]

Tissue Transglutaminase, drawn from PDB 1FAU

Biopsy[edit | edit source]

biopsy from the second portion of the duodenum can verify the presence of pathology in the region, but cannot specifically indicate the presence of Celiac Disease. An abnormal biopsy presents with either histologic changes to surrounding epithelial tissue or by the presence of villous atrophy. 

Serologic marker testing[edit | edit source]

Serologic marker testing can also be utilized in order to confirm the presence of Celiac Disease.  Anti-tissue transglutaminase antibody (AGA) and anti-endomysial antibody (EMA is an antibody against an intestinal connective tissue protein) are both tested and each have sensitivity and specificity of greater than 90%.[1] 

Blood work[edit | edit source]

complete blood count (CBC) to test for iron deficiency anemia or folate deficiency anemia is also another common test implemented in the diagnosis and treatment of Celiac Disease[1]. Normal Hematocrit levels include the following values: 36%-40% for children, 40%-50% for males, and 38%-47% for females. Normal Hemoglobin values are indicated as the following: children 11-13 g/dl, adult males 13-18 g/dl, and adult females 12-16 g/dl. Normal platelet levels are between a count of 150,000-450,000 per serum sample[7].

A Schilling test may also be implemented to detect the presence of pernicious anemia (vitamin B-12 deficiency)[1]. Urinating out greater than or equal to 9% of the radioactive vitamin B-12 is considered an abnormal value.[8]  

basic metabolic profile (BMP)  is often implemented in the diagnosis of Celiac disease to ascertain information about blood electrolyte chemistry. This lab profile reveals information pertaining to pathology concerning dehydration and malabsorption by the small intestine.[1] Normal values are as follows: 135-145 mEq/L for Sodium, 96-105 mEq/L for chlorine, 10-25 mEq/L for blood urea nitrogen, 3.5-5.2 mEq/L for potassium, 22-27 mEq/L for carbon dioxide, 0.8-1.2 mEq/L for creatinine, and 70-120 mEq/L for glucose (note: the unit of mEq/L is milliequivalent of indicated compound per liter of total serum sample)[7]. The d-xylose absorption test can also be performed to help differentiate intestinal mucosal disease from pancreatic disease[9]. This test reveals information about the integrity of the intestinal mucosal lining. Abnormal absorption is indicated if serum d‑xylose is less than 20 mg/dL or less than 4 g of d-xylose is present in a urine sample. This test is 91% sensitive and specific for detecting small intestine malabsorption.[9]

Other tests[edit | edit source]

Other tests include:a

  • Colonoscopy 
  • Barium Xray test to detect the presence of malabsorption along the gastrointestinal tract
  • Direct stool sample analysis of fat content can also be implemented to detect the presence of steatorrhea (abnormally high-fat content contained within expelled fecal matter). Fecal fat greater than 7 grams per day is considered abnormal.[1][8]

Causes[edit | edit source]

Researchers believe changes in genes HLA-DQ2 and DQ8 to be related to predisposing a person to Celiac Disease, although they believe there are still more genes involved in the development of this disease.[4] In people with the genetic propensity for a gluten reaction, the ingestion of foods containing gluten stimulates gluten sensitive T-cells in the small intestine. The T-cells trigger an inflammatory process in the small intestine which changes the histological makeup of the cells that line the lumen of the small intestine and it causes the villi (hair like projections within the lumen of the small intestine involved in nutrient absorption) to atrophy and eventually to be destroyed.[5]

Systemic Involvement[edit | edit source]

Dermatitis Herpetiformis

The small intestine is the primary organ targeted for systemic involvement of Celiac Disease. Abdominal distention, abdominal cramping, nausea, and indigestion are all direct results of systemic involvement of Celiac Disease affecting the small intestine.[5] Malabsorption of ingested nutrients and changes in dietary habits however, can manifest dysfunction throughout the entire systemic system.[5]  Changes in bowel and bladder habits are commonly associated with the presence of Celiac Disease. Explosive acute diarrhea, chronic diarrhea, steatorrhea (increased fraction of fecal fat), and nocturia (increased urination at night) are among the symptoms that can occur pertaining to changes in bowel and bladder function related to Celiac Disease.[5]  Changes in blood volume can result from malabsorption problems of the small intestine. Hypotension and anemia can often manifest from pathologic changes of blood volume related to malabsorption problems.[5] Fatigue (both central command and peripheral) and an ability to focus conscious attention can result from the brain and entire body not receiving daily nutritional requirements from blocked absorption at the small intestine. In some cases of Celiac Disease, hypertension has also been reported[10].The issues related to blood volume can vary from person to person, depending on family history, dietary habits, and lifestyle choices of the indvidual.  An associated reaction of the epidermis may also be involved. A skin rash known as Dermatitis Herpetiformis can form commonly at the buttocks, knees, or elbows as a direct consequence of Celiac Disease.[5] Other systemic conditions such as polyneuropathy, dilatative cardiomyopathy, psoriasis, and vasculitis may also result from malabsorption.[5]

Medical Management[edit | edit source]

The primary treatment for Celiac Disease is maintaining a life long regimen of a gluten free diet.[1][6] Nutritional supplements are also commonly used in adjunct to maintaining a gluten free diet.[1][6] This is done in order to make up for nutritional deficiencies that are often present when following a gluten free dietary regimen. The nutritional insufficiencies may vary depending on the dietary habits of the individual. Corticosteroid treatments may also be utilized if the traditional means of treating Celiac Disease are unsuccessful.[1]

Physical Therapy Management[edit | edit source]

Celiac Disease is derived solely from pathology involving the enteric system.  Physical therapy interventions are designed to address impairments and functional limitations of the musculoskeletal system. There is currently no evidence to support the implementation of physical therapy as a direct interventional method for the treatment of Celiac Disease. However, physical therapy may be implemented in order to treat secondary musculoskeletal conditions that may accompany Celiac Disease. Such conditions include joint pain, muscle atrophy, and osteoporosis/osteopenia.[11] Physical therapists could also assist in educating patients on topics pertaining to physical fitness, dietary recommendations, lifestyle choices, and community resources with reference to patient needs.

Differential Diagnosis[edit | edit source]

Below is a list of conditions that should be considered in the alternative diagnosis of Celiac Disease. A complete medical history (both subjective and objective), a thorough clinical exam, and extensive laboratory testing should be implemented in the differential diagnosis of Celiac Disease.[1][4][5][6][12]

Case Reports[edit | edit source]

Resources[edit | edit source]

1. Link to comprehensive list of foods containing gluten [15][15][14][14][14][14][14][14][14][13][13]

2.Celiac Sprue Association Sponsored Gluten-free recipes and tips for cooking gluten free:  http://www.csaceliacs.org/recipes.php[16][16][15][15][15][15][15][15][15][14][14]

3.Link to Nationwide contacts for Celiac Disease support groups by state[17][16][16][16][16][15][15]

4. In a 2006 Interview with CNN, Dr. Peter H.R. Green of Colombia University explains Celiac Disease:


References[edit | edit source]

  1. 1.00 1.01 1.02 1.03 1.04 1.05 1.06 1.07 1.08 1.09 1.10 1.11 1.12 1.13 1.14 1.15 1.16 Ruiz,Atenodoro R. Jr. Celiac Sprue.Merck Manual for Healthcare Professionals. http://www.merck.com/mmpe/sec02/ch017/ch017d.html?qt=celiac%20disease&alt=sh. (Accessed 1 March 2010).
  2. Parzanese I, Qehajaj D, Patrinicola F, Aralica M, Chiriva-Internati M, Stifter S, Elli L, Grizzi F. Celiac disease: From pathophysiology to treatment. World journal of gastrointestinal pathophysiology. 2017 May 15;8(2):27.
  3. Fasano A. Prevalence of celiac disease in at-risk and not-at-risk groups in the United States: a large multicenter study. Arch Intern Med 2003; 163(3): 286-292.
  4. 4.0 4.1 4.2 Mayo Clinic. Celiac Disease. http://www.mayoclinic.com/health/celiac-disease/DS00319 (Accessed 1 March 2010).
  5. 5.0 5.1 5.2 5.3 5.4 5.5 5.6 5.7 5.8 5.9 Goodman Catherine C., Fuller Kenda S. Pathology: Implications for the Physical Therapist. 3rd ed. St. Louis: Saunders Elsevier, 2009. p848-851.
  6. 6.0 6.1 6.2 6.3 Fasano Alessio,Catassi Carlo. Current Approaches to Diagnosis and Treatment of Celiac Disease: An Evolving Spectrum. Gastroenterology 2001;120:636–651. http://medschool.umaryland.edu/celiac/documents/celiacgastro.pdf (Accessed 1 March 2010).
  7. 7.0 7.1 Mook, Kenneth A MD PhD. Personal communication: Lecture "Interpretation and Application of Common Labwork."Bellarmine University, Louisville Ky. 26 January 2009.
  8. 8.0 8.1 Johnson, Larry E. Vitamin B12. Merck Manual for Healthcare Professionals. http://www.merck.com/mmpe/sec01/ch004/ch004i.html#sec01-ch004-ch004j-395 (Accessed 2 March 2010).
  9. 9.0 9.1 Ruiz,Atenodoro R. Jr. Introduction to Malabsorption Syndrome.Merck Manual for Healthcare Professionals. http://www.merck.com/mmpe/sec02/ch017/ch017a.html (Accessed 1 March 2010).
  10. 10.0 10.1 Zamani Farhad, Et al. Celiac disease as a potential cause of idopathic portal hypertension: a case report. Journal of Medical Case Reports 2009; 3:68. http://jmedicalcasereports.com/content/3/1/68 (Accessed 3 March 2010)
  11. Fuchs, V., Kurppa, K., Huhtala, H., Collin, P., Mäki, M., & Kaukinen, K. (2014). Factors associated with long diagnostic delay in celiac disease. Scandinavian Journal of Gastroenterology, 1–7.
  12. Goodman Catherine C., Snyder Teresa E. Differential Diagnosis for Physical Therapists: Screening for Referral. 4th ed. St. Louis: Saunders Elsevier, 2007. p366-408.
  13. Eberman Lindsey E., Cleary Michelle A. Celiac Disease in an Elite Female Collegiate Volleyball Athlete: A Case Report. Journal of Athletic Training 2005; 40(4): 360-364. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1323299/ (Accessed 3 March 2010)
  14. Leone James E. Et al. Celiac Disease Symptoms in a Female Collegiate Tennis Player: A Case Report. Journal of Athletic Training 2005; 40(4): 365-369. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1323300/ (Accessed 3 March 2010).
  15. Celiac.com:Celiac Disease and Gluten-free Diet Information Since 1995. Unsafe Gluten-Free Food List (Unsafe Ingredients). http://www.celiac.com/articles/182/1/Unsafe-Gluten-Free-Food-List-Unsafe-Ingredients/Page1.html (Accessed 2 March 2010).
  16. Celiac Sprue Association: "Celiacs Helping Celiacs." Gluten-Free Recipes. http://www.csaceliacs.org/recipes.php (Accessed 2 March 2010)
  17. Celiac.com: Celiac Disease and Gluten-free Diet Information Since 1995. A List of Local Celiac Disease Support Groups/Chapters. http://www.celiac.com/articles/227/1/A-List-of-Local-Celiac-Disease-Support-GroupsChapters/Page1.html (Accessed 2 March 2010).
  18. CNN. Celiac Disease. Available from: http://www.youtube.com/watch?v=pCj-vwLhjO0 [last accessed 02/03/10]