Differentiating celiac disease from other diseases

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief:  Mahshid Mir, M.D. [2]

## Overview

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Celiac disease must be differentiated from other diseases presenting as chronic diarrhea. Common differentials of celiac disease include lactose intolerance, cystic fibrosis, Crohns disease,  laxative overuse, hyperthyroidism and irritable bowel syndrome.

## Differentiating Celiac Disease from Other Diseases

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Celiac disease must be differentiated from other diseases presenting as chronic diarrhea (diarrhea for more than 2 weeks) and abdominal pain and discomfort.[1][2][3][4][5][6][7]

The table below summarizes the diseases that cause malabsorption, diarrhea and abdominal pain.

Abbreviations: WBC: White blood cells; Plt: Platelets, Hgb: Hemoglobin, IgE: Immunoglobulin E, IgA: Immunoglobulin A Abbreviations: WBC: White blood cells; Plt: Platelets, Hgb: Hemoglobin, IgE: Immunoglobulin E, IgA: Immunoglobulin A

Cause  | Peak age of onset  | History  | Physical exam  | Lab findings  | Additional findings  | Cause/Pathogenesis  | Gold standard diagnosis

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Fever  | Abdominal pain  | Diarrhea  | Weight loss
Watery  | Fatty  | WBC  | Hgb  | Plt  | Other lab findings
Celiac disease | Childhood

Adult

| \-  | \+  | +/-  | +/-  | \+  |

* Abdominal distention
* Tetany
* Mouth ulcers

| \-  | ↓  | \-  |

* IgA endomysial antibody
* Anti-tissue transglutaminase antibody
* Anti-gliadin antibody

* Signs of the fat-soluble vitamins A, D, E, and K deficiency
* Dementia
* Hepatosplenomegaly
* Ascites
* Dermatitis herpetiformis
* Must follow Gluten-free diet

* HLA-DQ2
* HLA-DQ8
* Innate responses to wheat proteins

* IgA endomysial antibody
* IgA tissue transglutaminase antibody

Whipple's disease  | 40-60  | ±  | \+  | \+  | \+  | \+  |

* Abnormal extraocular movement
* Lymphadenopathy
* Hyperpigmentation
* Decreased breathing sound

| ↓  | ↓  | ↓/↑  |

* Hypoalbuminemia

* Uveitis
* Endocarditis
* Encephalitis
* Dementia
* Hepatosplenomegaly
* Ascites
* Pleural effusion

* Tropheryma whipplei
* HLA-B27

* Small intestine biopsy for Tropheryma whipplei testing
* PCR testing

Cystic fibrosis | Childhood

Adult

| ±  | \+  | \-  | \+  | \+  |

* Digital clubbing
* Abnormal breathing sounds
* Cyanosis

| \-  | ↓  | \-  |

* Positive DNA analysis for CFTR
* Evaluated nasal transepithelial potential difference (NPD)

* Diabetes
* Recurrent upper and lower respiratory tract infections
* Infertility

* Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) protein

* Elevated sweat chloride ≥60 mmol/L

Crohns disease | Young adults

(20th)

| \+  | \+  | \+  | \+  | \+  |

* Abdominal tenderness
* Tachycardia
* Hypotension

| ↑  | ↓  | ↑  |

* Iron deficiency
* Vitamin B12 deficiency
* Elevated ESR
* Elevated CRP

* Blood seen on rectal exam

* Abnormal immune response to self antigens

* Colonoscopy with biopsy

Irritable bowel syndrome | 30-50  | \-  | ±  | ±  | ±  | \-  |

* Abdominal tenderness
* Flatulence
* Hard stool in the rectal vault

| \-  | \-  | \-  |  |  |  |

* Diagnosis of exclusion

VIPoma | 30-50  | \-  | \+  | \+  | \+  | \+  |

* Tachycardia
* Rash
* Facial flushing
* Abdominal distention
* Abdominal RUQ tenderness

| \-  | \-  | \-  |

* Elevated VIP level
* Hypokalemia
* Hypochlorhydria or achlorhydria
* Low osmotic gap (<50 mOsm/kg)

* Dehydration
* Lethargy
* Muscle weakness
* Nausea
* Vomiting

* Primary secretory tumor

* Elevated VIP levels
* Followed by imaging

Zollinger-Ellison syndrome | 20-50  | \-  | \+  | \+  | \+  | \+  |

* Abdominal tenderness

| \-  | ↓  | \-  |

* Positive secretin stimulation test
* Elevated serum chromogranin A

* Heartburn

* Gastrin producing tumor mainly in duodenum

* Elevated basal or stimulated serum gastrin> 120 pg/mL

Lactose intolerance | Any age  | \-  | \+  | \+  | \-  | \-  |

* Abdominal tenderness
* Hypotension
* Tachycardia
* Nausea and vomiting

| \-  | \-  | \-  |

* Hydrogen breath test

* Bloating
* Flatulence
* Symptoms begin mainly after ingestion of lactose

* Reduction of lactase enzyme activity or inability to produce persistent lactase
* Congenital lactase deficiency

* Lactase activity assay

Eosinophilic gastroenteritis | 30th  | \-  | \+  | \+  | \+  | \+  |

* Abdominal distention

| ↑  | \-  | \-  |

* Elevated serum IgE levels
* Eosinophilia
* Elevated ESR
* Hypoalbuminemia

* Other allergic disorders
* Associated with an identifiable dietary antigen

* Autoimmune allergic response to food antigens

* Eosinophilic infiltration of the gastrointestinal tract on biopsy

Primary bile acid malabsorption | Childhood Adult  | \-  | \+  | \+  | \+  | \+  |  | \-  | ↓  | \-  |

* Low vitamins A, D, E, and K

|  |

* Genetic defects in SLC10A2 (solute carrier family 10 member 2 gene)

* Elevated total and specific bile acids in stool
* Positive SeHCAT

Abetalipoproteinemia | Infancy

Adult

| \-  | \+  | \+  | \+  | \+  |

* Abdominal distension
* Visual field defect
* Dysarthria

| \-  | \-  | \-  |

* Low triglyceride
* Low total cholesterol levels
* Acanthocytes
* Low vitamin E levels

* Visual impairment
* Ataxia

* Autosomal recessive disorder caused by mutations encoding the microsomal triglyceride transfer protein (MTP)

* Clinical findings and low triglyceride and cholesterol level

Microscopic colitis | 50-70  | \-  | \+  | \+  | \-  | \+  |

* Abdominal tenderness

| \-  | ↓  | \-  |

* Elevated autoantibodies include:
* RF
* ANA
* AMA
* ANCA

* Fecal urgency
* Fecal incontinence
* Arthralgia
* Arthritis
* Uveitis

* Mucosal immune responses to luminal factors in a genetically predisposed individual

* Colonoscopy with mucosal biopsy with mononuclear infiltrates:
* Collagenous colitis is characterized by a colonic subepithelial collagen band >10 micrometers in diameter
* Lymphocytic colitis is characterized by ≥20 intraepithelial lymphocytes (IEL) per 100 surface epithelial cells

Hyperthyroidism | Any age  | ±  | \+  | \+  | \-  | \+  |

* Lump in the neck
* Proptosis
* Tremor
* Increased DTR

| \-  | \-  | \-  |

* Elevated T4
* Elevated T3
* Decreased TSH

* Lid lag
* Sweating
* Hyperpigmentation

* Graves' disease
* Hashimoto's thyroiditis
* Toxic adenoma

* TSH

Grain allergy  | Childhood  | \-  | \+  | \+  | \-  | \+  |

* Vomiting
* Abdominal distension

| \-  | \-  | \-  |

* Elevated IgE

* Atopic dermatitis
* Dysphagia

* Abnormal immune response to wheat antigens

* Measurement of grain-specific immunoglobulin E (IgE)

## References

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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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
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.CS1 maint: Multiple names: authors list (link)
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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
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.CS1 maint: Multiple names: authors list (link)
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.CS1 maint: Multiple names: authors list (link)
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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