Differentiating celiac disease from other diseases: Difference between revisions

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! rowspan="2" |Cause
! rowspan="2" |Cause
! colspan="2" |Diarrhea
! colspan="2" |Diarrhea
! rowspan="2" |Age of onset  
! rowspan="2" |Peak age of onset  
! colspan="3" |History
! colspan="3" |History
! rowspan="2" |Physical exam
! rowspan="2" |Physical exam
! rowspan="2" |Lab findings
! rowspan="2" |Lab findings
! rowspan="2" |Additional finding
! rowspan="2" |Additional finding
! rowspan="2" |Cause
! rowspan="2" |Cause/Pathogenesis
! rowspan="2" |Gold standard dignosis
! rowspan="2" |Gold standard dignosis
|-
|-
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* [[Mouth ulcers]]
* [[Mouth ulcers]]
* [[Dermatitis herpetiformis]]
* [[Dermatitis herpetiformis]]
* Signs of the fat-soluble [[Vitamin A|vitamins A]], [[Vitamin D|D]], E, and K deficiency
|
|
* [[IgA]] [[endomysial antibod]]<nowiki/>y (IgA EMA)
* [[IgA]] [[endomysial antibod]]<nowiki/>y (IgA EMA)
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|
|
* [[Gluten-free diet]]
* [[Gluten-free diet]]
* Signs of the fat-soluble [[Vitamin A|vitamins A]], [[Vitamin D|D]], E, and K deficiency
|
|
* [[HLA]]-DQ2 and/or DQ8 [[gene mutation]]  
* [[HLA]]-DQ2 and/or DQ8 [[gene mutation]]  
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* Stool pH <6 
* Stool pH <6 
|
|
* Avoidance of [[Dietary|dietar]]<nowiki/>y [[lactose]]
* Avoidance of [[Dietary|dietary]]<nowiki/> [[lactose]]
* Substitution to maintain [[nutrient]] intake
* Substitution to maintain [[nutrient]] intake
* Regulation of [[calcium]] intake
* Regulation of [[calcium]] intake
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|
|
* [[Digital clubbing]]
* [[Digital clubbing]]
* Respiratory [[Rales|rale]], [[wheeze]], and [[Crackles|crackle]]
* [[Rales|Respiratory rale]], [[wheeze]], and [[Crackles|crackle]]
* [[Abdominal pain]]
* [[Abdominal pain]]
* [[Cyanosis]]
* [[Cyanosis]]
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* Disease manifestations in multiple organ systems:
* Disease manifestations in multiple organ systems:
** [[Diabetes]]
** [[Diabetes]]
** Recurrent upper and lower r[[Respiratory tract infections|espiratory tract infections]]
** Recurrent upper and lower [[Respiratory tract infections|respiratory tract infections]]
** [[Infertility]]
** [[Infertility]]
|Mutations in the [[cystic fibrosis]] transmembrane conductance regulator (CFTR) protein
|
* Mutations in the [[cystic fibrosis]] transmembrane conductance regulator (CFTR) protein
|
|
* Elevated [[Sweat chloride test|sweat chloride]] ≥60 mmol/L
* Elevated [[Sweat chloride test|sweat chloride]] ≥60 mmol/L
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* [[Hypermagnesemia]](in case of [[magnesium]] [[laxative]] usage)
* [[Hypermagnesemia]](in case of [[magnesium]] [[laxative]] usage)
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|[[Laxative]] drug abuse
|
* [[Laxative]] drug abuse
|
|
* [[Laxatives|laxative]] screening on a stool for:
* [[Laxatives|laxative]] screening on a stool for:
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* Blood seen on [[rectal exam]]
* Blood seen on [[rectal exam]]
* [[Fever]]
* [[Fever]]
|Abnormal immune response to self [[antigens]]
|
* Abnormal immune response to self [[antigens]]
|
|
* [[Colonoscopy]] with [[biopsy]]
* [[Colonoscopy]] with [[biopsy]]
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* Increased [[Deep tendon reflex|DTR]]
* Increased [[Deep tendon reflex|DTR]]
|
|
* Elevated T4
* Elevated [[T4]]
* Elevated T3
* Elevated [[T3]]
* Decreased level of TSH
* Decreased level of [[TSH]]
|
|
* Stare
* Lid lag
* Lid lag
* Sweating
* [[Sweating]]
* Hyperpigmentation
* [[Hyperpigmentation]]
|
|
* Graves' disease
* [[Graves' disease]]
* Hashimoto thyrotoxicosis
* [[Hashimoto's thyroiditis|Hashimoto thyroiditis]]
* Toxic adenoma  
* Toxic adenoma  
|
|
* [[TSH]] with [[T3]] and [[T4]]
* [[TSH]]  
|-
|-
|[[VIPoma]]
|[[VIPoma]]
| +
| +
| -
| -
|between 30 and 50
|Between 30 and 50
|<nowiki>+</nowiki>
|<nowiki>+</nowiki>
|<nowiki>+/-</nowiki>
|<nowiki>+/-</nowiki>
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* [[Abdominal tenderness]] in the right upper abdominal quadrant
* [[Abdominal tenderness]] in the right upper abdominal quadrant
|
|
*hypokalemia
*[[Hypokalemia]]
*Hypochlorhydria or achlorhydria
*[[Hypochlorhydria]] or [[achlorhydria]]
*low osmotic gap (<50 mOsm/kg)
*Low osmotic gap (<50 mOsm/kg)
|
|
* [[Dehydration]]  
* [[Dehydration]]  
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* [[Nausea]], [[vomiting]]
* [[Nausea]], [[vomiting]]
* [[Flushing]]
* [[Flushing]]
|Primary secretory tumor
|
* Primary secretory tumor
|
|
* Elevated [[VIP]] levels
* Elevated [[VIP]] levels
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| +
| +
| -
| -
|between 30 and 50
|Between 30 and 50
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
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* [[Bloating|Bloating]]
* [[Bloating|Bloating]]
* [[Flatulence]]
* [[Flatulence]]
|Postinfectious
|
 
* Postinfectious
Inflammatory
* Inflammatory
|
|
* [[Diagnosis|Clinical diagnosis]]
* [[Diagnosis|Clinical diagnosis]]
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| -
| -
| +
| +
|Adolescents and increase risk with age
|Any age
|<nowiki>+</nowiki>
|<nowiki>+</nowiki>
|<nowiki>-</nowiki>
|<nowiki>-</nowiki>
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* Symptoms begin mainly after ingestion of [[lactose]]
* Symptoms begin mainly after ingestion of [[lactose]]
|
|
* Reduction of lactase enzyme activity or lactase nonpersistence
* Congenital lactase deficiency
|lactase activity assay
|lactase activity assay
|-
|-
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|<nowiki>+</nowiki>
|<nowiki>+</nowiki>
|
|
* arthralgias of the large joints
* [[Arthralgia|Arthralgias]] of the large joints
* [[Hematochezia]]  
* [[Hematochezia]]  
|
|
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* [[Skin hyperpigmentation]]
* [[Skin hyperpigmentation]]
* [[Arthralgias]]
* [[Arthralgias]]
|''Tropheryma whipplei'' 
|''[[Tropheryma whipplei]]'' 
|Upper [[endoscopy]] with [[biopsies]] of the [[small intestine]] for ''[[Tropheryma whipplei|T. whipplei]]'' testing ([[histology]] with [[Periodic acid-Schiff stain|PAS staining]], [[polymerase chain reaction]] [[[PCR]]] testing, and [[immunohistochemistry]])
|Upper [[endoscopy]] with [[biopsies]] of the [[small intestine]] for ''[[Tropheryma whipplei|T. whipplei]]'' testing ([[histology]] with [[Periodic acid-Schiff stain|PAS staining]], [[polymerase chain reaction]] [[[PCR]]] testing, and [[immunohistochemistry]])
|-
|-
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* [[Vomiting]]
* [[Vomiting]]
* [[Abdominal distention]]
* [[Abdominal distention]]
|S/E:
|[[Stool examination|Stool examination:]]
* Blood-tinged and mucusy
* Blood-tinged and mucusy
* [[Polymorphonuclear leukocytes]] presence
* [[Polymorphonuclear leukocytes]] presence
|
|
* triggered by cow's milk protein
* Triggered by cow's milk protein
* profuse, repetitive vomiting
* Profuse, repetitive [[vomiting]]
|Autoimmune/allergic response to food antigens
|[[Autoimmunity|Autoimmune]]/[[Allergy|allergic]] response to food [[antigens]]
|[[oral]] food challenge (OFC)
|[[oral]] food challenge (OFC)
|-
|-
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| +
| +
| -
| -
|3rd decade
|30th
| +/-
| +/-
| +/-
| +/-
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* [[Abdominal distention]]
* [[Abdominal distention]]
|
|
* elevated [[serum]] [[IgE]] levels
* Elevated [[serum]] [[IgE]] levels
* abnormal [[D-xylose]] test
* Abnormal [[D-xylose]] test
|
|
* one-half of patients have other [[allergic diseases]]
* One-half of patients have other [[Allergic disorders|allergic diseases]]
* associated with an identifiable [[dietary]] [[antigen]]
* Associated with an identifiable [[dietary]] [[antigen]]
|Autoimmune/allergic response to food antigens
|[[Autoimmunity|Autoimmune]]/[[Allergy|allergic]] response to food [[antigens]]
|[[eosinophilic]] infiltration of the [[gastrointestinal tract]] on [[biopsy]]
|[[eosinophilic]] infiltration of the [[gastrointestinal tract]] on [[biopsy]]
|-
|-
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| +
| +
| -
| -
|6th decde
|60th
| +
| +
| -
| -
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* [[Abdominal tenderness]]
* [[Abdominal tenderness]]
|
|
* autoantibodies include:
* Elevated[[autoantibodies]] include:
** [[RF]]
** [[RF]]
** [[ANA]]
** [[ANA]]
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** [[Arthritis]]
** [[Arthritis]]
** [[Uveitis]]
** [[Uveitis]]
|mucosal immune responses to luminal factors in a genetically predisposed individual
|
* [[Mucosal]] [[immune responses]] to luminal factors in a genetically predisposed individual
|
|
* A [[colonoscopy]] with [[mucosal]] [[biopsy]] with mononuclear infiltrates:
* A [[colonoscopy]] with [[mucosal]] [[biopsy]] with mononuclear infiltrates:
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* History of [[polyhydramnios]]
* History of [[polyhydramnios]]
|
|
[[Mutations]] in the ''SLC26A3'' gene
[[Mutations]] in the ''SLC26A3'' gene
* Encodes for an [[epithelial]] [[anion]] exchanger 
* Encodes for an [[epithelial]] [[anion]] exchanger 
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* Excessive [[Fecal|feca]]<nowiki/>l secretion of [[chloride]]
* Excessive [[Fecal|feca]]<nowiki/>l secretion of [[chloride]]
|-
|-
|Congenital [[sodium]] [[diarrhea]]
|Congenital sodium [[diarrhea]]
| +
| +
| -
| -
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| -
| -
| -
| -
|S/E:
|[[Stool examination|Stool examination:]]
* [[Alkaline]]
* [[Alkaline]]
* Fecal [[sodium]] concentrations
* Fecal [[sodium]] concentrations
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|
|
* May be associated with [[Choanal atresia|choanal]] or [[anal atresia]]
* May be associated with [[Choanal atresia|choanal]] or [[anal atresia]]
|mutations in the ''SPINT2'' gene
|
* Mutations in the ''SPINT2'' gene
|Clinical
|Clinical
|-
|-
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| +
| +
|[[Abdominal tenderness]]
|[[Abdominal tenderness]]
|S/E:
|[[Stool examination|Stool examination:]]
* Acidic
* Acidic
|
|
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** Lead to deficiency in the intestinal sodium/glucose transporter
** Lead to deficiency in the intestinal sodium/glucose transporter
|
|
* positive [[glucose]] breath [[hydrogen]] test + normal intestinal [[biopsy]]
* Positive [[glucose]] breath [[hydrogen]] test + normal intestinal [[biopsy]]
|-
|-
|[[Abetalipoproteinemia]]
|[[Abetalipoproteinemia]]
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| +
| +
| +
| +
|[[Abdominal distension|Abdominal distention]]
|
Impaired [[visual acuity]] and [[Visual field defect|visual field defects]]
* [[Abdominal distension|Abdominal distention]]
 
* Impaired [[visual acuity]] and [[Visual field defect|visual field defects]]
[[Dysarthria]] 
* [[Dysarthria]]
|Low [[triglyceride]]
|
Low total [[cholesterol]] levels 
* Low [[triglyceride]]
 
* Low total [[cholesterol]] levels 
[[Acanthocytes]] 
* [[Acanthocytes]]
 
* Low [[vitamin E]] levels
Low [[vitamin E]] levels
|
|
* [[Clumsiness]]
* [[Clumsiness]]
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|
|
* [[autosomal recessive]] disorder caused by mutations encoding the [[microsomal]] [[triglyceride]] transfer protein (MTP)
* [[autosomal recessive]] disorder caused by mutations encoding the [[microsomal]] [[triglyceride]] transfer protein (MTP)
|Clinical findings and low [[triglyceride]] and [[cholesterol]] level
|
* Clinical findings and low [[triglyceride]] and [[cholesterol]] level
|-
|-
|Primary [[bile acid]] [[malabsorption]]
|Primary bile acid malabsorption
| +
| +
| +/-
| +/-
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| -
| -
|
|
* Low Vitamin A-K-E-D
* Low [[Vitamin A|vitamins A]], [[Vitamin D|D]], E, and K  
* Anemia  
* [[Anemia]]
|
|
* Disease hetergenicity lead to varying presentation from chronic [[diarrhea]] without significant fat [[Malabsorption|malabsorptio]]<nowiki/>n to severe [[watery diarrhea]] and steatorrhea with [[malnutrition]]
* Disease hetergenicity lead to varying presentation from chronic [[diarrhea]] without significant fat [[Malabsorption|malabsorptio]]<nowiki/>n to severe [[watery diarrhea]] and steatorrhea with [[malnutrition]]
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* [[Gamma emitter selenium-75-homocholic acid taurine]] (SeHCAT)
* [[Gamma emitter selenium-75-homocholic acid taurine]] (SeHCAT)
|-
|-
! rowspan="2" |Cause
|[[Gastrinoma]] ([[Zollinger-Ellison syndrome|Zollinger-Ellison syndrome]]<nowiki/>)
! colspan="2" |Diarrhea
! rowspan="2" |Age of onset
! colspan="3" |History
! rowspan="2" |Physical exam
! rowspan="2" |Lab findings
! rowspan="2" |Additional finding
! rowspan="2" |Cause
! rowspan="2" |Gold standard dignosis
|-
!Watery
!Fatty
!Weight loss
!FTT
!Abdominal pain
|-
|[[Gastrinoma]] ([[Zollinger-Ellison syndrome|Zollinger-Ellison syndrom]]<nowiki/>e)
| +
| +
| -
| -
|between the ages of 20 and 50
|Between the ages of 20 and 50
| +
| +
| +/-
| +/-
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|
|
* [[heartburn]]
* [[heartburn]]
|[[Gastrin]] producing tumor mainly in [[duodenum]]
|
|elevated basal or stimulated serum [[gastrin]] more than 1000 pg/mL
* [[Gastrin]] producing tumor mainly in [[duodenum]]
|}
|
(solute-linked carrier famly 26 member A3)
* Elevated basal or stimulated serum [[gastrin]] more than 1000 pg/mL
 
|}  
oral food challenge (OFC): 


==References==
==References==

Revision as of 11:28, 13 September 2017

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

Differentiating Celiac Disease from Other Diseases

Celiac disease must be differentiated from other diseases presenting as chronic diarrhea. The table below summarizes the findings that differentiate causes of chronic diarrhea[1][2][3][4][5][6][7]

Cause Diarrhea Peak age of onset History Physical exam Lab findings Additional finding Cause/Pathogenesis Gold standard dignosis
Watery Fatty Weight loss FTT Abdominal pain
Celiac disease +/- +/- Childhood

Adult

+ + +
Lactose intolerance + - Adult - - +
  • Stool osmotic gap of >125 mOsm/kg 
  • Stool pH <6 
Cystic fibrosis - + Infancy and childhood + + +
  • Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) protein
Laxative overuse + - After childhood +/- - +/- -
Crohns disease + - Young adults

(20th)

+ +
  • Abnormal immune response to self antigens
Hyperthyroidism + - Any age + - +/-
  • Elevated T4
  • Elevated T3
  • Decreased level of TSH
VIPoma + - Between 30 and 50 + +/- +/-
  • Primary secretory tumor
  • Elevated VIP levels
  • Followed by imaging
Irritable bowel syndrome + - Between 30 and 50 - - + -
  • Postinfectious
  • Inflammatory
lactose intolerance - + Any age + - +/-
  • Reduction of lactase enzyme activity or lactase nonpersistence
  • Congenital lactase deficiency
 lactase activity assay
Whipple disease +/- + 50th + - + Tropheryma whipplei  Upper endoscopy with biopsies of the small intestine for T. whipplei testing (histology with PAS staining, polymerase chain reaction [[[PCR]]] testing, and immunohistochemistry)
Allergic enteropathy/Food protein-induced enterocolitis syndrome (FPIES) + - Infancy +/- +/- + Stool examination:
  • Triggered by cow's milk protein
  • Profuse, repetitive vomiting
 Autoimmune/allergic response to food antigens oral food challenge (OFC)
Eosinophilic gastroenteritis  + - 30th +/- +/- + Autoimmune/allergic response to food antigens eosinophilic infiltration of the gastrointestinal tract on biopsy
Microscopic colitis + - 60th + - +
Congenital chloride diarrhea + - Neonate + + - -

Mutations in the SLC26A3 gene

Congenital sodium diarrhea + - Neonate + + - - Stool examination:

Serum:

  • Mutations in the SPINT2 gene
 Clinical
Glucose-galactose malabsorption + - Infancy + +/- + Abdominal tenderness Stool examination:
  • Acidic
  • Mutations in solute carrier family 5, member 1 gene (SLC5A1, also known as SGLT1)
    • Lead to deficiency in the intestinal sodium/glucose transporter
Abetalipoproteinemia - + Infancy + + +
Primary bile acid malabsorption + +/- Childhood Adolescents + + +/- -
Gastrinoma (Zollinger-Ellison syndrome) + - Between the ages of 20 and 50 + +/- +
  • Elevated basal or stimulated serum gastrin more than 1000 pg/mL

References

  1. ↑ Silverberg MS, Satsangi J, Ahmad T, Arnott ID, Bernstein CN, Brant SR; et al. (2005). "Toward an integrated clinical, molecular and serological classification of inflammatory bowel disease: report of a Working Party of the 2005 Montreal World Congress of Gastroenterology". Can J Gastroenterol. 19 Suppl A: 5A–36A. PMID 16151544.
  2. ↑ Sauter GH, Moussavian AC, Meyer G, Steitz HO, Parhofer KG, Jüngst D (2002). "Bowel habits and bile acid malabsorption in the months after cholecystectomy". Am J Gastroenterol. 97 (7): 1732–5. doi:10.1111/j.1572-0241.2002.05779.x. PMID 12135027.
  3. ↑ Maiuri L, Raia V, Potter J, Swallow D, Ho MW, Fiocca R; et al. (1991). "Mosaic pattern of lactase expression by villous enterocytes in human adult-type hypolactasia". Gastroenterology. 100 (2): 359–69. PMID 1702075.
  4. ↑ RUBIN CE, BRANDBORG LL, PHELPS PC, TAYLOR HC (1960). "Studies of celiac disease. I. The apparent identical and specific nature of the duodenal and proximal jejunal lesion in celiac disease and idiopathic sprue". Gastroenterology. 38: 28–49. PMID 14439871.
  5. ↑ Hertzler SR, Savaiano DA (1996). "Colonic adaptation to daily lactose feeding in lactose maldigesters reduces lactose intolerance". Am J Clin Nutr. 64 (2): 232–6. PMID 8694025.
  6. ↑ Briet F, Pochart P, Marteau P, Flourie B, Arrigoni E, Rambaud JC (1997). "Improved clinical tolerance to chronic lactose ingestion in subjects with lactose intolerance: a placebo effect?". Gut. 41 (5): 632–5. PMC 1891556. PMID 9414969.
  7. ↑ BLACK-SCHAFFER B (1949). "The tinctoral demonstration of a glycoprotein in Whipple's disease". Proc Soc Exp Biol Med. 72 (1): 225–7. PMID 15391722.

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