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Celiac Disease: Diagnosis - Columbia University · Celiac Disease: Diagnosis • Documentation of malabsorption • Demonstration of villous atrophy and/or intraepithelial lymphocytosis

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Page 1: Celiac Disease: Diagnosis - Columbia University · Celiac Disease: Diagnosis • Documentation of malabsorption • Demonstration of villous atrophy and/or intraepithelial lymphocytosis
Page 2: Celiac Disease: Diagnosis - Columbia University · Celiac Disease: Diagnosis • Documentation of malabsorption • Demonstration of villous atrophy and/or intraepithelial lymphocytosis

Celiac Disease: Diagnosis

• Documentation of malabsorption• Demonstration of villous atrophy and/or

intraepithelial lymphocytosis by smallbowel biopsy

• Improvement of symptoms andmucosal histology after glutenwithdrawal

Celiac DiseaseHistologic Spectrum

Page 3: Celiac Disease: Diagnosis - Columbia University · Celiac Disease: Diagnosis • Documentation of malabsorption • Demonstration of villous atrophy and/or intraepithelial lymphocytosis

Celiac Disease

MILD(partial villous

atrophy)

MODERATE(subtotal villousatrophy)

SEVERE(total villous atrophy)

Page 4: Celiac Disease: Diagnosis - Columbia University · Celiac Disease: Diagnosis • Documentation of malabsorption • Demonstration of villous atrophy and/or intraepithelial lymphocytosis

Celiac Disease–Intraepithelial lymphocytosis

IELs increased>5 lymph/10 enterocytes(NL: 2 lymph/10 enterocytes)

CD3 (T-cell immunostain)

Page 5: Celiac Disease: Diagnosis - Columbia University · Celiac Disease: Diagnosis • Documentation of malabsorption • Demonstration of villous atrophy and/or intraepithelial lymphocytosis

Malabsorption: Definition

• Suboptimal absorption of fats, vitamins,proteins, carbohydrates, electrolytes,minerals and water

Page 6: Celiac Disease: Diagnosis - Columbia University · Celiac Disease: Diagnosis • Documentation of malabsorption • Demonstration of villous atrophy and/or intraepithelial lymphocytosis

Collagenous sprue

Page 7: Celiac Disease: Diagnosis - Columbia University · Celiac Disease: Diagnosis • Documentation of malabsorption • Demonstration of villous atrophy and/or intraepithelial lymphocytosis
Page 8: Celiac Disease: Diagnosis - Columbia University · Celiac Disease: Diagnosis • Documentation of malabsorption • Demonstration of villous atrophy and/or intraepithelial lymphocytosis

Whipple’s Disease

• Rare systemic disease: about 1000cases reported up to 2007

• Small intestine, CNS and joints arepreferentially affected

• Cause: Tropheryma whipplei,discovered in 1992, cultured in 2000

Page 9: Celiac Disease: Diagnosis - Columbia University · Celiac Disease: Diagnosis • Documentation of malabsorption • Demonstration of villous atrophy and/or intraepithelial lymphocytosis
Page 10: Celiac Disease: Diagnosis - Columbia University · Celiac Disease: Diagnosis • Documentation of malabsorption • Demonstration of villous atrophy and/or intraepithelial lymphocytosis

Whipple Disease:Differential Diagnosis (MAI)

• Infection with Mycobacterium aviumintracellulare (MAI or MAC)– MAI (AFB +); Whipple (AFB-)

• Common in patients with AIDS• Decreasing incidence since new

antiviral medications

Page 11: Celiac Disease: Diagnosis - Columbia University · Celiac Disease: Diagnosis • Documentation of malabsorption • Demonstration of villous atrophy and/or intraepithelial lymphocytosis
Page 12: Celiac Disease: Diagnosis - Columbia University · Celiac Disease: Diagnosis • Documentation of malabsorption • Demonstration of villous atrophy and/or intraepithelial lymphocytosis

AFB stain +

Page 13: Celiac Disease: Diagnosis - Columbia University · Celiac Disease: Diagnosis • Documentation of malabsorption • Demonstration of villous atrophy and/or intraepithelial lymphocytosis
Page 14: Celiac Disease: Diagnosis - Columbia University · Celiac Disease: Diagnosis • Documentation of malabsorption • Demonstration of villous atrophy and/or intraepithelial lymphocytosis

Abetalipoproteinemia

Lipid stainNormal

Page 15: Celiac Disease: Diagnosis - Columbia University · Celiac Disease: Diagnosis • Documentation of malabsorption • Demonstration of villous atrophy and/or intraepithelial lymphocytosis

Lymphangiectasia

• Primary lymphangiectasia: rare congenitaldisorder; defective lymphatics; normallyabsorbed nutrients reach the lymphatics butcannot be transported into the circulation.

• Secondary lymphangiectasia: morecommon; complication of any disorder thatcauses lymphatic obstruction: enlargedmesenteric lymph nodes (cancer orinflammatory), heart disease (constrictivepericarditis, CHF)

Page 16: Celiac Disease: Diagnosis - Columbia University · Celiac Disease: Diagnosis • Documentation of malabsorption • Demonstration of villous atrophy and/or intraepithelial lymphocytosis
Page 17: Celiac Disease: Diagnosis - Columbia University · Celiac Disease: Diagnosis • Documentation of malabsorption • Demonstration of villous atrophy and/or intraepithelial lymphocytosis
Page 18: Celiac Disease: Diagnosis - Columbia University · Celiac Disease: Diagnosis • Documentation of malabsorption • Demonstration of villous atrophy and/or intraepithelial lymphocytosis
Page 19: Celiac Disease: Diagnosis - Columbia University · Celiac Disease: Diagnosis • Documentation of malabsorption • Demonstration of villous atrophy and/or intraepithelial lymphocytosis
Page 20: Celiac Disease: Diagnosis - Columbia University · Celiac Disease: Diagnosis • Documentation of malabsorption • Demonstration of villous atrophy and/or intraepithelial lymphocytosis

Primary malignant neoplasmsof Small Intestine

Page 21: Celiac Disease: Diagnosis - Columbia University · Celiac Disease: Diagnosis • Documentation of malabsorption • Demonstration of villous atrophy and/or intraepithelial lymphocytosis

Tumors of the Small Intestine:why are they so rare?

• Rapid transit of small bowel contents• Smaller bacterial load• Increased lymphoid tissue

Carcinomas of the Small Intestine

• Most common location: duodenum,periampullary, least common: ileum

• Growth patterns: annular constricting orpolypoid masses

• Symptoms: Obstruction and/or bleeding• Predisposing conditions: Celiac

disease and Crohn’s disease

Page 22: Celiac Disease: Diagnosis - Columbia University · Celiac Disease: Diagnosis • Documentation of malabsorption • Demonstration of villous atrophy and/or intraepithelial lymphocytosis

Adenocarcinoma

Adenocarcinoma

Page 23: Celiac Disease: Diagnosis - Columbia University · Celiac Disease: Diagnosis • Documentation of malabsorption • Demonstration of villous atrophy and/or intraepithelial lymphocytosis

Carcinoid Tumors of the GI Tract

• GI tract is the most common site ofcarcinoids (67%)

• Small intestine is the most commonsite of GI carcinoids, followed byrectum and appendix

• Prognosis is site and size dependent

Page 24: Celiac Disease: Diagnosis - Columbia University · Celiac Disease: Diagnosis • Documentation of malabsorption • Demonstration of villous atrophy and/or intraepithelial lymphocytosis

Carcinoid tumor- Ileum

Carcinoid tumor- Ileum

Page 25: Celiac Disease: Diagnosis - Columbia University · Celiac Disease: Diagnosis • Documentation of malabsorption • Demonstration of villous atrophy and/or intraepithelial lymphocytosis
Page 26: Celiac Disease: Diagnosis - Columbia University · Celiac Disease: Diagnosis • Documentation of malabsorption • Demonstration of villous atrophy and/or intraepithelial lymphocytosis
Page 27: Celiac Disease: Diagnosis - Columbia University · Celiac Disease: Diagnosis • Documentation of malabsorption • Demonstration of villous atrophy and/or intraepithelial lymphocytosis