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Celiac Disease SYED A. SADIQ, MD GASTROENTEROLOGY ASSOCIATE OF NORTH TEXAS WWW.GANTGI.COM.

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Presentation on theme: "Celiac Disease SYED A. SADIQ, MD GASTROENTEROLOGY ASSOCIATE OF NORTH TEXAS WWW.GANTGI.COM."— Presentation transcript:

1 Celiac Disease SYED A. SADIQ, MD GASTROENTEROLOGY ASSOCIATE OF NORTH TEXAS

2 CELIAC DISEASE Issues for consideration What clinical presentation suggest CD How to screen and diagnose CD How to evaluate someone already on GFD Do we need to screen family members Follow up of patients with CD What to do with Non responsive CD Managing complications Potential new therapies

3 PREVALENCE OF CELIAC DISEASE Traditionally, highest in western Ireland (1:300), with lower in other European countries (1:1000) and even lower in USA (1:5000) Higher prevalence (1:100 – 1:300) in genetically susceptible population In USA less then 10 – 15 % of current cases of CD have been diagnosed as compere to over 50% in some other countries

4 SUSCEPTIBILITY FOR CELIAC DISEASE General population of USA Expression of HLA DR3-DQ2 or HAL DR4-DQ* Patient with Celiac disease

5 SUSCEPTIBILITY FOR CELIAC DISEASE Increased frequency of HLA haplotypes ( DR3-DQ2, DR4-DQ8) Other Factors involved: Other genetic influences (GWAS), Gene on chromosome 5, 16 and ? 6… Environmental factors: Drugs, Infections, Cross reactivity H. P (Cytokines released during infection altering immunity)

6 PATHOPHYSIOLOGY OF CELIAC DISEASE IBS CD

7 PATHOPHYSIOLOGY OF CELIAC DISEASE The toxic component of the gluten molecule lies in the PROLAMIN portion ( Proline + Glutamine) Prolamine containing food causing CD is present in Wheat (Gliadin) Rye (Secalin) Barley (Hordien) Prolamine Containing food that DOES NOT causes CD Oat (Avenine) ??? (Wheat cross reactivity) Rice Corn

8 PATHOPHYSIOLOGY OF CELIAC DISEASE

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12 CLINICAL PRESENTATION OF CELIAC DISEASE Classic CD of childhood Late onset : Non specific symptoms Dermatitis Herpetiformis Extra intestinal presentation ( Multiple, e.g undefined iron deficiency Anemia) Silent / Asymptomatic disease Latent or Potential CD

13 CLINICAL PRESENTATION OF CELIAC DISEASE CLASSICAL PRESENTATION PRESENT IN PEDIATRIC POPULATION Failure to thrive Weight loss Protuberant abdomen Bloating Diarrhea- steatorrhea Abdominal pain Dramatic response to gluten free diet

14 CLINICAL PRESENTATION OF CELIAC DISEASE VARYING FORMS Classical presentation is less common Average age of diagnosis is 5 th decade Seroprevalance M=F, Diagnosis F > M Other presentation are more common Unexplained Iron deficiency Anemia Osteoporosis Obstetrical problems Neuropsychiatric manifestation Related autoimmune conditions

15 CLINICAL PRESENTATION OF CELIAC DISEASE ADULTS : IBS V/S CD Altered bowel habit ( Diarrhea, constipation, combination) Bloating Dyspepsia Abdominal discomfort Heartburn

16 CLINICAL PRESENTATION OF CELIAC DISEASE DERMATITIS HERPETIFORMIS Pruritic Papulovesicular leions ( IgA deposit at he dermal-Epidermal level) Almost all patient have GI symptoms Topical treatment does not help. GFD resolve all skin lesions

17 CLINICAL PRESENTATION OF CELIAC DISEASE OBSTETRIC/GYNECOLOGICAL Delayed Menarche Earlier Menopause Increased prevalence of early amenorrhea Infertility Higher miscarriage rate Increased IUGR Lower birth weights Premature birth

18 CLINICAL PRESENTATION OF CELIAC DISEASE NEUROPSYCHIATRIC & BEHAVIORAL Folate and Vit-B12 deficiency Ataxia Peripheral neuropathy Schizophrenia ADHD Irritability / cognitive disorder Depression Migraine Cerebral calcifications

19 CLINICAL PRESENTATION OF CELIAC DISEASE ASSOCIATED CONDITIONS Primary sclerosing cholangitis Autoimmune cholangitis Primary biliary cirrhosis Non specific Transaminases (LFT) elevation ( up to x 5) Progressive systemic sclerosis (Scleroderma) / Sjogrens syndrome / RA Hashimoto thyroiditis (Autoimmune thyroid disorder) Type I Diabetes Microscopic colitis

20 CELIAC DISEASE DIAGNOSIS

21 Intestinal histology GOLD STANADARD in diagnosing Celiac Disease (Characteristic histological changes) Serology Clinical: some cases histological response to a GFD Rarely necessary to observe clinical and histological response to Gluten Challenge Dermatitis Herpetiformis: a classical skin biopsy is sufficient to make diagnosis

22 CELIAC DISEASE DIAGNOSIS Marsh Classification

23 CELIAC DISEASE DIAGNOSIS NORMAL Celiac disease

24 CELIAC DISEASE SEROLOGY DIAGNOSIS TestSensitivitySpecificity AGA IgA< 80 % ( 50 % range)> 80 % in most AGA IgGVariableNon specific EMA IgA96-97 %100 % tTG IgA90-98 %95-98% tTG IgM40% (Useful in IgA def)98% Important to check serum total IgA level in all patients

25 CELIAC DISEASE DIAGNOSIS What are the best serological test for screening: Overall, tTG IgA remain the best recommended test EMA IgA is helpful if positive Anti Glidan Ab, no longer used as first line. Always check total IgA, to avoid false negative results

26 CELIAC DISEASE DIAGNOSIS GENETICS HLA DQ screening test: PCR of RNA extracted from cells. DR3-DQ2 or DR5/7-DQ % DR4-DQ8 – 5-10 % Only HLA DQ2 or DQ8 are at risk for CD

27 CELIAC DISEASE DIAGNOSIS GENETICS WHO TO TEST: Close relative of patients with confirmed CD (Wishing to know if they are at risk) Patient on Gluten free diet who are candidate to undergo a gluten challenge to confirm CD Equivocal histology and serology, Suspect CD How often to test: Once in life time

28 CELIAC DISEASE PROPOSED NEW CRITERIA FOR DIAGNOSIS Four out of Five are sufficient to diagnose CD : Typical symptoms of CD High titers of serum CD IgA class autoantibodies ( tTG > 10 X UL, option to diagnose without biopsy) HLA DQ2/DQ8 genotype Celiac enteropathy by small bowel biopsy (GOLD STANDARD) Response to CFD

29 CELIAC DISEASE DIAGNOSIS ALGORITHM

30 CELIAC DISEASE MANAGEMENT Goal: Return of normal health and prevent complications Life long GFD Low lactose diet Nutritional supplement (Calcium, Vit-D, Iron, Folate and other micronutrients) Utilize registered dietician Encourage patient to gain self knowledge, by joining local chapter of various Celiac organization

31 CELIAC DISEASE MANAGEMENT TREATMENT = GLUTEN FREE DIET Non compliance is the biggest issue Eating out of home Peer pressure in children Less acceptable taste Accidental ingestion of Gluten Cost 1-3 times higher GFD ameliorate complication of CD Unclear how much if any is safe ( New FDA guideline 20 PPM (up to 10 mg/day is safe) Labeling in USA for wheat since 2008 (Gluten free product since 2008)

32 CELIAC DISEASE UNTREATED Manifestation of malabsorption ( Anemia, Osteoporosis, neurological symptoms) Decrease QOL Infertility, Miscarriage, IUGR Malignancy ( ~ 4 times general population) Slight increase in mortality May progress to refractory disease

33 CELIAC DISEASE RESPONSE TO TREATMENT Clinical improvement in 2 weeks in 70 %, and by 6 weeks > 90 % Serologic improvement by 4-6 weeks Weight restoration Constipation is quite common ( Diarrhea in disease state) Histological improvement is last ( May take up to 2 years or more)

34 CELIAC DISEASE FOLLOW-UP Correct nutritional deficiencies Follow tTG IgA initially until normalize, Then Check tTG IgA every year or two thereafter Repeat DEXA scan ever 2 year if abnormal In persistent symptoms for over a year or so check radiological studies and +/- repeat EGD ( For lymphoma surveillance) Promote general good health ( Exercise, maintain BMI and adhere to screening)

35 CELIAC DISEASE NON RESPONDER Celiac disease and Microscopic colitis: 4-5 % have coexisting MC Older group of patient More severe CD ( Severe mucosal atrophy) High morbidity Coincident disorder: Lactose deficiency Pancreatic insufficiency Small intestinal bacterial overgrowth (SIBO) IBS

36 CELIAC DISEASE REFRACTORY CELIAC DISEASE Despite strict GFD for 6-12 months: Severe villous atrophy with persistent malabsorption Rare with low prevalence Primary form – No initial response to GFD Secondary form ( More common): After initial response to GFD tTG IgA remain normal if patient is on GFD Risk for RCD: old age, Two DQ2 alleles Poor prognosis: % mortality rate ( 50 % patient dies within 3-5 years of diagnosis) Higher incidences of intestinal lymphomas

37 CELIAC DISEASE REFRACTORY CELIAC DISEASE

38 Treatment options: Anti-Inflammatory agents: Mesalamine Immune modulating therapies: e.g. Corticosteroid therapy, Anti TNF Nutritional support: TPN, Hypoallergenic-elemental formula Hematopoietic Stem cell transplantation Anti IL-15

39 CELIAC DISEASE PREVENTION AND FUTURE Prevention: Affective screening Different times of introduction of Gluten in to the infant diet Modify Gluten molecules: Endopepetidases: KUMAMOLISIN-AS ( KUMA-MAX) break the gluten molecule, so it is no longer immunogenic Immunotherapy: Block: tTG expression, HLA or T cell response

40 CELIAC DISEASE TAKE HOME MESSAGE CD is not rare ( 1 in ) It present in many different ways and is associated with various autoimmune diseases Increase reporting of Gluten sensitivity or Gluten Intolerance Diagnostic test perform well but have some limitations Gluten free diet remain the main stay of successful treatment Potential new therapies are being investigated Multiple causes of nonresponsive celiac disease


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