Celiac Disease
Study guide:
Definition:
A condition of autoimmunity & malabsorption precipitated by gluten (found in wheat, barely, & rye) in individuals with genetic predisposition.
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Also known as celiac sprue or gluten sensitive enteropathy.
Epidemiology:
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1% prevalence in whites (common)
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Occurs at any age:
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Early (almost 2 years)– Most common once gluten is introduced.
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Late (third to fourth decades)– Third decade is most commonly associated with pregnancy.
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High-risk groups/ associations:
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Individuals with first degree relatives suffering of celiac disease
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Type 1 diabetes mellitus (most common).
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Autoimmune diseases (1° biliary cirrhosis & hashimoto thyroiditis).
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Turner's & Down syndromes.
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Associated with increased risk of malignancy (T-cell lymphoma).
Pathogenesis:

Clinical manifestations:
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Those with adequate surface area remaining:
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Pallor due to anemia
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Osteoporosis
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Dermatitis herpetiformis: rash on the surfaces ofbuttocks & extensorsthat is itchy, blistering & burning. figure (1).
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Those with significant mucosal involvement:
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Streatorrhea (or even watery diarrhea)
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Weight loss
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Failure to thrive (infants)
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Water-soluble & fat-soluble vitamin deficiencies:
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Usually vitamin K deficiency -> tendency to bleed.
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Cobalamin deficiency (in 10%)
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Other systemic findings: delayed puberty, infertility, miscarriages, seizure, depression, and osteoporosis.
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Figure 1: Dermatitis Heptiformis.


Diagnosis:
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Serology (diagnostic antibodies):
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Anti–tissue transglutaminase IgA/IgG antibodies.
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By ELISA- IgA is the most important- 98% sensitivity & specificity- Excellent screening test; screening test of choice.
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Antiendomysial (EMA) IgA antibodies:
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By indirect immunofluorescence- 100% sensitivity & specificity (more specific than anti-tTG)
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Excellent for screening; screening test of choice.
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Anti-deaminated gliadin IgA/IgG antibodies - 80% sensitivity, 85% specificity- Moderately hood screening test.
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Endoscopic biopsy:
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Hallmark of diagnosis: confirmatory test.
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Characteristics:
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Blunt/flattened/absent villi in proximal intestine; duodenum & jejunum -> decreased mucosal absorption. Figure (2).
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Crypt hyperplasia.
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Increased intraepithelial lymphocytes (it could be the only abnormal fining in biopsy).
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HLA genotyping:
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Useful in exclusion: those who lack DQ2 or DQ8 gene
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Figure 2: Blunted villi.

Diagnosis:
-
Serology (diagnostic antibodies):
-
Anti–tissue transglutaminase IgA/IgG antibodies.
-
By ELISA- IgA is the most important- 98% sensitivity & specificity- Excellent screening test; screening test of choice.
-
Antiendomysial (EMA) IgA antibodies:
-
By indirect immunofluorescence- 100% sensitivity & specificity (more specific than anti-tTG)
-
Excellent for screening; screening test of choice.
-
-
Anti-deaminated gliadin IgA/IgG antibodies - 80% sensitivity, 85% specificity- Moderately hood screening test.
-
-
Endoscopic biopsy:
-
Hallmark of diagnosis: confirmatory test.
-
Characteristics:
-
Blunt/flattened/absent villi in proximal intestine; duodenum & jejunum -> decreased mucosal absorption. Figure (2).
-
Crypt hyperplasia.
-
Increased intraepithelial lymphocytes (it could be the only abnormal fining in biopsy).
-
-
HLA genotyping:
-
Useful in exclusion: those who lack DQ2 or DQ8 gene
-
Treatment:
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Lifelong gluten-free diet (oats are tolerated the most though).
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Supplements for nutritional deficiencies: folic acid, B12, & calcium.
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Steroids in refractory cases.
Prognosis:
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90% happen to experience symptomatic improvement in two weeks when following a gluten-free diet.
References:
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Kumar, Parveen J, and Michael L Clark. Kumar & Clark's Clinical Medicine. Print.
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Howland, Richard D et al. Pharmacology. Philadelphia: Lippincott Williams & Wilkins, 2006. Print.
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Hldemo.ebscohost.com,. '| Diabetes Mellitus Type 2 In Adults'. N.p., 2015. Web. 5 Nov. 2015.
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Haas, L. et al. 'National Standards For Diabetes Self-Management Education And Support'. Diabetes Care 37.Supplement_1 (2013): S144-S153. Web. 5 Nov. 2015.
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Hall, Justin, and Azra Premji. Toronto Notes For Medical Students, Inc. © 2015. 2015. Print.
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Agabegi, Steven S, Elizabeth D Agabegi, and Adam C Ring. Step-Up To Medicine. Philadelphia: Wolters Kluwer/Lippincott Williams & Wilkins, 2013. Print.
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Fischer, Conrad. Master The Boards. Print.
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Perez, Mayra, Lindsay K Botsford, and Winston Liaw. Déjà Review. New York: McGraw-Hill Medical, 2011. Print.
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(DM), Diabetes. 'Diabetes Mellitus (DM) - Endocrine And Metabolic Disorders'. Merck Manuals Professional Edition. N.p., 2015. Web. 5 Nov. 2015.
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Emedicine.medscape.com,. 'Type 1 Diabetes Mellitus: Practice Essentials, Background, Pathophysiology'. N.p., 2015. Web. 5 Nov. 2015.
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Al-Rubeaan, Khalid et al. 'Epidemiology Of Abnormal Glucose Metabolism In A Country Facing Its Epidemic: SAUDI-DM Study'. Journal of Diabetes 7.5 (2014): 622-632. Web.
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Aljabri, KhalidS, SamiaA Bokhari, and KhalidA Alqurashi. 'Prevalence Of Diabetes Mellitus In A Saudi Community'. Annals of Saudi Medicine 31.1 (2011): 19. Web.
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ProProfs,. 'DIABETIC FOOT'. N.p., 2015. Web. 5 Nov. 2015. (Figure1).
First author: Lama Al Luhidan
Second author: Roaa Amer
Reviewed by: Abdullah AlAsaad
Haifa Al Issa
Husam Al Tahan
Format Editor: Adel Yasky
Bayan Alzomaili
Audio recording:
Read by: Thekra AlGholaiqa
Directed by: Rana Alzahrani
Audio production: Bayan Alzomaili