Celiac disease: Difference between revisions
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==Background<ref name="NEJM Celiac">Fasano A, Catassi C. Celiac Disease. New England Journal of Medicine. 2012;367(25):2419-2426. doi:10.1056/nejmcp1113994.</ref><ref name="Path">Parzanese I. Celiac disease: From pathophysiology to treatment. World Journal of Gastrointestinal Pathophysiology. 2017;8(2):27-38. doi:10.4291/wjgp.v8.i2.27.</ref><ref name="Complications">Freeman HJ. Adult Celiac Disease and Its Malignant Complications. Gut and Liver. 2009;3(4):237-246. doi:10.5009/gnl.2009.3.4.237.</ref>== | ==Background<ref name="NEJM Celiac">Fasano A, Catassi C. Celiac Disease. New England Journal of Medicine. 2012;367(25):2419-2426. doi:10.1056/nejmcp1113994.</ref><ref name="Path">Parzanese I. Celiac disease: From pathophysiology to treatment. World Journal of Gastrointestinal Pathophysiology. 2017;8(2):27-38. doi:10.4291/wjgp.v8.i2.27.</ref><ref name="Complications">Freeman HJ. Adult Celiac Disease and Its Malignant Complications. Gut and Liver. 2009;3(4):237-246. doi:10.5009/gnl.2009.3.4.237.</ref>== | ||
[[File:Coeliac Disease.png|thumb|Schematic of the Marsh classification of upper jejunal pathology in coeliac disease.]] | [[File:Coeliac Disease.png|thumb|Schematic of the Marsh classification of upper jejunal pathology in coeliac disease.]] | ||
*Also known as “Celiac Sprue” | *Also known as “Celiac Sprue” | ||
| Line 7: | Line 11: | ||
*1.5 to 2 times more prevalent in females than in males | *1.5 to 2 times more prevalent in females than in males | ||
*Gluten is found in wheat, rye, and barley | *Gluten is found in wheat, rye, and barley | ||
*Associated with strong family history, Type 1 [[DM]], autoimmune [[thyroid disorder]]s along with other autoimmune disorders, Turner’s syndrome, and [[Down syndrome]] | *Associated with strong family history, Type 1 [[Special:MyLanguage/DM|DM]], autoimmune [[Special:MyLanguage/thyroid disorder|thyroid disorder]]s along with other autoimmune disorders, Turner’s syndrome, and [[Special:MyLanguage/Down syndrome|Down syndrome]] | ||
*[[Rotavirus]] infection in children increases risk of developing disease | *[[Special:MyLanguage/Rotavirus|Rotavirus]] infection in children increases risk of developing disease | ||
*Breastfeeding reported to reduce risk by 50% | *Breastfeeding reported to reduce risk by 50% | ||
*MHC class II proteins HLA-DQ2 (90%) and HLA-DQ8 are expressed in almost all of patients affected by Celiac disease | *MHC class II proteins HLA-DQ2 (90%) and HLA-DQ8 are expressed in almost all of patients affected by Celiac disease | ||
===Pathophysiology<ref name="NEJM Celiac"></ref><ref name="Path"></ref>=== | ===Pathophysiology<ref name="NEJM Celiac"></ref><ref name="Path"></ref>=== | ||
*Gluten triggers an immune mediated systemic disorder | *Gluten triggers an immune mediated systemic disorder | ||
*Can be weeks to years between gluten exposure and onset of symptoms | *Can be weeks to years between gluten exposure and onset of symptoms | ||
| Line 23: | Line 29: | ||
*T-helper type 2 cells promote conversion of B cells to plasma cells that produce anti-gliadin and anti-tissue-transglutaminase antibodies that are used in serologic testing | *T-helper type 2 cells promote conversion of B cells to plasma cells that produce anti-gliadin and anti-tissue-transglutaminase antibodies that are used in serologic testing | ||
*This process leads to celiac enteropathy with histological features such as decreased enterocyte height, crypt hyperplasia, villous atrophy, and increased intraepithelial T lymphocytes | *This process leads to celiac enteropathy with histological features such as decreased enterocyte height, crypt hyperplasia, villous atrophy, and increased intraepithelial T lymphocytes | ||
==Clinical Features== | ==Clinical Features== | ||
===Classic Features=== | ===Classic Features=== | ||
*Classically presents around 6 to 18 months of age when foods containing gluten are introduced but can occur anytime | *Classically presents around 6 to 18 months of age when foods containing gluten are introduced but can occur anytime | ||
*Chronic [[diarrhea]] | *Chronic [[Special:MyLanguage/diarrhea|diarrhea]] | ||
*Weight loss | *Weight loss | ||
*Abdominal distension | *Abdominal distension | ||
*Iron deficiency with or without [[anemia]] | *Iron deficiency with or without [[Special:MyLanguage/anemia|anemia]] | ||
*[[Aphthous stomatitis]] | *[[Special:MyLanguage/Aphthous stomatitis|Aphthous stomatitis]] | ||
*Short stature | *Short stature | ||
*High aminotransferase levels | *High aminotransferase levels | ||
| Line 38: | Line 47: | ||
*Reduced bone mineral density | *Reduced bone mineral density | ||
*Vitamin D deficiency | *Vitamin D deficiency | ||
===Atypical Features=== | ===Atypical Features=== | ||
*Few or no gastrointestinal symptoms | *Few or no gastrointestinal symptoms | ||
*Older children or adults | *Older children or adults | ||
*[[Dermatitis herpetiformis]] | *[[Special:MyLanguage/Dermatitis herpetiformis|Dermatitis herpetiformis]] | ||
*Gluten Ataxia | *Gluten Ataxia | ||
===Silent or Asymptomatic From=== | ===Silent or Asymptomatic From=== | ||
*Patients have no symptoms | *Patients have no symptoms | ||
*Diagnosed based on serology of histology | *Diagnosed based on serology of histology | ||
*Found in patients with strong family history of disease, autoimmune disorders, chromosomal disorders ([[Down syndrome]]) | *Found in patients with strong family history of disease, autoimmune disorders, chromosomal disorders ([[Special:MyLanguage/Down syndrome|Down syndrome]]) | ||
===Refractory Form=== | ===Refractory Form=== | ||
*Persistent or recurrent symptoms or villous atrophy despite gluten free diet for 12 months | *Persistent or recurrent symptoms or villous atrophy despite gluten free diet for 12 months | ||
===Celiac Crisis<ref name="Crisis">Jamma S, Rubio–Tapia A, Kelly CP, et al. Celiac Crisis Is a Rare but Serious Complication of Celiac Disease in Adults. Clinical Gastroenterology and Hepatology. 2010;8(7):587-590. doi:10.1016/j.cgh.2010.04.009.</ref>=== | ===Celiac Crisis<ref name="Crisis">Jamma S, Rubio–Tapia A, Kelly CP, et al. Celiac Crisis Is a Rare but Serious Complication of Celiac Disease in Adults. Clinical Gastroenterology and Hepatology. 2010;8(7):587-590. doi:10.1016/j.cgh.2010.04.009.</ref>=== | ||
*Life threatening | *Life threatening | ||
*Often observed after a general immune stimulus such as surgery or infection | *Often observed after a general immune stimulus such as surgery or infection | ||
| Line 59: | Line 76: | ||
*Severe diarrhea | *Severe diarrhea | ||
*Hypoproteinemia | *Hypoproteinemia | ||
*Metabolic and [[electrolyte disturbance]]s | *Metabolic and [[Special:MyLanguage/electrolyte disturbance|electrolyte disturbance]]s | ||
===Complications from untreated disease<ref name="NEJM Celiac"></ref><ref name="Path"></ref><ref name="Complications"></ref>=== | ===Complications from untreated disease<ref name="NEJM Celiac"></ref><ref name="Path"></ref><ref name="Complications"></ref>=== | ||
*Osteoporosis | *Osteoporosis | ||
*Impaired splenic function | *Impaired splenic function | ||
*Infertility | *Infertility | ||
*Recurrent [[spontaneous abortion|abortion]] | *Recurrent [[Special:MyLanguage/spontaneous abortion|abortion]] | ||
*Ulcerative jejunoileitis | *Ulcerative jejunoileitis | ||
*Enteropathy-associated intestinal T-cell [[lymphoma]] | *Enteropathy-associated intestinal T-cell [[Special:MyLanguage/lymphoma|lymphoma]] | ||
*Adenocarcinoma of the jejunum | *Adenocarcinoma of the jejunum | ||
*Non-Hodgkin lymphoma | *Non-Hodgkin lymphoma | ||
*[[Vitamin deficiencies]] | *[[Special:MyLanguage/Vitamin deficiencies|Vitamin deficiencies]] | ||
==Differential Diagnosis== | ==Differential Diagnosis== | ||
*[[Acute diarrhea]] | |||
*[[Special:MyLanguage/Acute diarrhea|Acute diarrhea]] | |||
* Chronic diarrhea | * Chronic diarrhea | ||
*[[Irritable bowel syndrome]] | *[[Special:MyLanguage/Irritable bowel syndrome|Irritable bowel syndrome]] | ||
*[[Small intestinal bacterial overgrowth]] | *[[Special:MyLanguage/Small intestinal bacterial overgrowth|Small intestinal bacterial overgrowth]] | ||
*Lactose intolerance | *Lactose intolerance | ||
*[[Chronic pancreatitis]] | *[[Special:MyLanguage/Chronic pancreatitis|Chronic pancreatitis]] | ||
*Microscopic colitis | *Microscopic colitis | ||
*[[Inflammatory bowel disease]] | *[[Special:MyLanguage/Inflammatory bowel disease|Inflammatory bowel disease]] | ||
*Non-celiac gluten sensitivity (NCGS) | *Non-celiac gluten sensitivity (NCGS) | ||
*Wheat allergy | *Wheat allergy | ||
*[[vitamin deficiencies|Vitamin or mineral deficiency]] | *[[Special:MyLanguage/vitamin deficiencies|Vitamin or mineral deficiency]] | ||
==Evaluation<ref name="NEJM Celiac"></ref>== | ==Evaluation<ref name="NEJM Celiac"></ref>== | ||
[[File:Celiac endo.png|thumb|Endoscopic still of duodenum of a person with celiac disease showing scalloping of folds and "cracked-mud" appearance to mucosa.]] | [[File:Celiac endo.png|thumb|Endoscopic still of duodenum of a person with celiac disease showing scalloping of folds and "cracked-mud" appearance to mucosa.]] | ||
*Rule out emergent causes of [[abdominal pain]] such as [[appendicitis]], [[small bowel obstruction]], [[bowel perforation]], etc. | *Rule out emergent causes of [[Special:MyLanguage/abdominal pain|abdominal pain]] such as [[Special:MyLanguage/appendicitis|appendicitis]], [[Special:MyLanguage/small bowel obstruction|small bowel obstruction]], [[Special:MyLanguage/bowel perforation|bowel perforation]], etc. | ||
*Depending on presentation, chemistry panel and/or abdominal imaging may be appropriate in the emergency department setting | *Depending on presentation, chemistry panel and/or abdominal imaging may be appropriate in the emergency department setting | ||
| Line 106: | Line 129: | ||
| HLA DQ2 or HLA-DQ8||91||45||High NPV | | HLA DQ2 or HLA-DQ8||91||45||High NPV | ||
|} | |} | ||
===Celiac Crisis<ref name="Crisis"></ref>=== | ===Celiac Crisis<ref name="Crisis"></ref>=== | ||
*History and physical | *History and physical | ||
*Assessment of volume status | *Assessment of volume status | ||
| Line 130: | Line 155: | ||
| Weight loss > 10 lbs | | Weight loss > 10 lbs | ||
|} | |} | ||
==Management== | ==Management== | ||
===Uncomplicated Celiac disease=== | ===Uncomplicated Celiac disease=== | ||
*Avoid wheat, rye, barley which all contain gluten | *Avoid wheat, rye, barley which all contain gluten | ||
*Possible benefit to avoiding large amounts of Oats | *Possible benefit to avoiding large amounts of Oats | ||
*IV fluids if necessary | *IV fluids if necessary | ||
===Celiac Crisis<ref name="Crisis"></ref>=== | ===Celiac Crisis<ref name="Crisis"></ref>=== | ||
*[[Fluid resuscitation]] | |||
*Oral or IV [[steroids]] | *[[Special:MyLanguage/Fluid resuscitation|Fluid resuscitation]] | ||
*Oral or IV [[Special:MyLanguage/steroids|steroids]] | |||
*Supplemental nutrition | *Supplemental nutrition | ||
*[[Electrolyte repletion]] | *[[Special:MyLanguage/Electrolyte repletion|Electrolyte repletion]] | ||
*Gluten free diet | *Gluten free diet | ||
==Disposition== | ==Disposition== | ||
===Uncomplicated Celiac disease=== | ===Uncomplicated Celiac disease=== | ||
*Primary care follow up: | *Primary care follow up: | ||
**Serology, histology, and likely EGD | **Serology, histology, and likely EGD | ||
| Line 154: | Line 187: | ||
**referral to specialists | **referral to specialists | ||
**serologic monitoring for recurrence | **serologic monitoring for recurrence | ||
===Celiac Crisis=== | ===Celiac Crisis=== | ||
*Hospital admission | *Hospital admission | ||
==See Also== | ==See Also== | ||
*[[Acute diarrhea]] | |||
*[[Irritable bowel syndrome]] | *[[Special:MyLanguage/Acute diarrhea|Acute diarrhea]] | ||
*[[Inflammatory bowel disease]] | *[[Special:MyLanguage/Irritable bowel syndrome|Irritable bowel syndrome]] | ||
*[[Special:MyLanguage/Inflammatory bowel disease|Inflammatory bowel disease]] | |||
==References== | ==References== | ||
<references/> | <references/> | ||
[[Category:GI]] | [[Category:GI]] | ||
</translate> | |||
Revision as of 21:47, 4 January 2026
Background[1][2][3]
- Also known as “Celiac Sprue”
- Affects 0.6 to 1.0% of worldwide population
- Occurs in industrialized countries and developing countries among all ethnicities and races
- Occurs in children and adults
- 1.5 to 2 times more prevalent in females than in males
- Gluten is found in wheat, rye, and barley
- Associated with strong family history, Type 1 DM, autoimmune thyroid disorders along with other autoimmune disorders, Turner’s syndrome, and Down syndrome
- Rotavirus infection in children increases risk of developing disease
- Breastfeeding reported to reduce risk by 50%
- MHC class II proteins HLA-DQ2 (90%) and HLA-DQ8 are expressed in almost all of patients affected by Celiac disease
Pathophysiology[1][2]
- Gluten triggers an immune mediated systemic disorder
- Can be weeks to years between gluten exposure and onset of symptoms
- Gluten is mainly composed of prolamine and glutanin
- Prolamines (such as Gliadin found in wheat) interact with intestinal cells to cause breakdown of the inter-enterocyte tight junctions
- Proposed that HLA-DQ2 and HLA-DQ8 present prolamines to antigen-specific CD4+ T lymphocytes in lamina propria of the small bowel
- Once activated, CD4+ T cells release pro-inflammatory cytokines and activate T-helper cells
- Proinflammatory cytokines such as IL-15 stimulate CD8+ T-lymphocytes
- T-helper type 1 cells release IFN-gamma
- T-helper type 2 cells promote conversion of B cells to plasma cells that produce anti-gliadin and anti-tissue-transglutaminase antibodies that are used in serologic testing
- This process leads to celiac enteropathy with histological features such as decreased enterocyte height, crypt hyperplasia, villous atrophy, and increased intraepithelial T lymphocytes
Clinical Features
Classic Features
- Classically presents around 6 to 18 months of age when foods containing gluten are introduced but can occur anytime
- Chronic diarrhea
- Weight loss
- Abdominal distension
- Iron deficiency with or without anemia
- Aphthous stomatitis
- Short stature
- High aminotransferase levels
- Chronic fatigue
- Reduced bone mineral density
- Vitamin D deficiency
Atypical Features
- Few or no gastrointestinal symptoms
- Older children or adults
- Dermatitis herpetiformis
- Gluten Ataxia
Silent or Asymptomatic From
- Patients have no symptoms
- Diagnosed based on serology of histology
- Found in patients with strong family history of disease, autoimmune disorders, chromosomal disorders (Down syndrome)
Refractory Form
- Persistent or recurrent symptoms or villous atrophy despite gluten free diet for 12 months
Celiac Crisis[4]
- Life threatening
- Often observed after a general immune stimulus such as surgery or infection
- Mostly observed in children
- Severe diarrhea
- Hypoproteinemia
- Metabolic and electrolyte disturbances
Complications from untreated disease[1][2][3]
- Osteoporosis
- Impaired splenic function
- Infertility
- Recurrent abortion
- Ulcerative jejunoileitis
- Enteropathy-associated intestinal T-cell lymphoma
- Adenocarcinoma of the jejunum
- Non-Hodgkin lymphoma
- Vitamin deficiencies
Differential Diagnosis
- Acute diarrhea
- Chronic diarrhea
- Irritable bowel syndrome
- Small intestinal bacterial overgrowth
- Lactose intolerance
- Chronic pancreatitis
- Microscopic colitis
- Inflammatory bowel disease
- Non-celiac gluten sensitivity (NCGS)
- Wheat allergy
- Vitamin or mineral deficiency
Evaluation[1]
- Rule out emergent causes of abdominal pain such as appendicitis, small bowel obstruction, bowel perforation, etc.
- Depending on presentation, chemistry panel and/or abdominal imaging may be appropriate in the emergency department setting
| Test | Sensitivity | Specificity | Comments |
| IgA anti-tTG antibodies | >95 | >95 | Screening test |
| IgG anti-tTG antibodies | Variable | Variable | Screening test in patients with IgA deficiency |
| IgA antendomysial antibodies | >90 | 98.2 | Useful if diagnosis unclear |
| IgG DGP | >90 | >90 | IgA deficiency and young patients |
| HLA DQ2 or HLA-DQ8 | 91 | 45 | High NPV |
Celiac Crisis[4]
- History and physical
- Assessment of volume status
- CBC to look for evidence of iron deficiency anemia
- CMP
- VBG
- Lactic acid
| Signs of severe dehydration including: hemodynamic instability and/or orthostatic changes |
| Neurologic dysfunction |
| Renal dysfunction: creatinine >2.0 g/dL |
| Metabolic acidosis: pH <7.35 |
| Hypoproteinemia (Albumin < 3.0 g/dL) |
| Abnormal electrolytes including: hyper/hyponatremia, hypocalcemia, hypokalemia or hypomagnesemia |
| Weight loss > 10 lbs |
Management
Uncomplicated Celiac disease
- Avoid wheat, rye, barley which all contain gluten
- Possible benefit to avoiding large amounts of Oats
- IV fluids if necessary
Celiac Crisis[4]
- Fluid resuscitation
- Oral or IV steroids
- Supplemental nutrition
- Electrolyte repletion
- Gluten free diet
Disposition
Uncomplicated Celiac disease
- Primary care follow up:
- Serology, histology, and likely EGD
- consultation with dietitian
- treatment of nutritional deficiencies
- referral to specialists
- serologic monitoring for recurrence
Celiac Crisis
- Hospital admission
See Also
References
- ↑ 1.0 1.1 1.2 1.3 Fasano A, Catassi C. Celiac Disease. New England Journal of Medicine. 2012;367(25):2419-2426. doi:10.1056/nejmcp1113994.
- ↑ 2.0 2.1 2.2 Parzanese I. Celiac disease: From pathophysiology to treatment. World Journal of Gastrointestinal Pathophysiology. 2017;8(2):27-38. doi:10.4291/wjgp.v8.i2.27.
- ↑ 3.0 3.1 Freeman HJ. Adult Celiac Disease and Its Malignant Complications. Gut and Liver. 2009;3(4):237-246. doi:10.5009/gnl.2009.3.4.237.
- ↑ 4.0 4.1 4.2 Jamma S, Rubio–Tapia A, Kelly CP, et al. Celiac Crisis Is a Rare but Serious Complication of Celiac Disease in Adults. Clinical Gastroenterology and Hepatology. 2010;8(7):587-590. doi:10.1016/j.cgh.2010.04.009.