Celiac Disease Management in the primary care setting

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Slide 1 : Celiac Disease: Management in the Primary Care Setting Pat Jackson Allen, RN, MS,PNP, FAAN Yale University
Slide 2 : Case Studies Jennifer is a 12 month old toddler being seen for failure to thrive. She was full- term at birth and maintained her height and weight @ the 50% for the first 6 months. Since then she has gained only 1 lb. and has had chronic diarrhea and abdominal bloating. Her mo reports she is a “picky eater”.
Slide 3 : Classic Celiac Gluten Diet After GFD for 10 weeks
Slide 4 : Case Studies Steven, age 7 years, is brought into the clinic because of recurrent abdominal pain with occasional diarrhea or constipation. He was previously diagnosed with “irritable bowel syndrome” but change in diet, relaxation techniques, and use of laxatives has not improved his symptoms. His height and weight have remained @ the 50% but his hgb has consistently been low normal.
Slide 5 : Case Studies Rebecca, age 15, is brought into the clinic because her mo has recently learned two first cousins were diagnosed with celiac disease. Rebecca’s mo asks if Rebecca should be screened even though she has no symptoms because she has heard “it runs in families”.
Slide 6 : Case Studies Heather, age 34, is being seen for her annual health maintenance visit. She is requesting a bone mineral density test because “early osteoporosis runs in my family”. She reports “soft teeth with multiple caries”. She denies any GI symptoms. A secondary concern expressed by Heather is her inability to become pregnant over the past year.
Slide 7 : Case Studies Karen, 50 years old, is being seen for fatigue, headaches, and mild depression. She describes her previous health as “good” except for multiple allergies, but over the past year she has not felt “well”. Laboratory screening has found she has mild anemia although she reports a diet high in iron sources.
Slide 8 : Case Studies John, age 65, has just been informed that he has a positive screening test for celiac disease. He was screened after being diagnosed by the dermatologist with dermatitis herpetiformis. He denies any GI symptoms and is balking at having to change to a gluten-free diet. “I like my beer and pretzels. I’ve never felt sick. Why should I give up donuts, cake, bread, gravy, and cereal?”
Slide 9 : Celiac Disease Etiology Autoimmune enteropathy Gluten environmental trigger Protean gliadin fraction of wheat gluten Similar proteins found in barley & rye Oats do not have offending proteins but may become contaminated in harvesting or milling Genetic predisposition Human leukocyte antigen (HLA) alleles DQA1 / DQB1 genes encoding DQ2 and / or DQ8 molecules Found in 95% of people with CD 70% concordance in identical twins
Slide 10 : Celiac Disease Etiology Physiological affect on intestinal system Healthy gut has intact intercellular tight junctions (TJs) preventing passage of gluten TJs compromised in CD allowing increased gut permeability & gluten antigen to pass normal barrier T-cell mediated immune response develops against ingested gluten Immune response may trigger other autoimmune reactions Increased incidence of autoimmune disorders reported in people with untreated CD (Ventura, et al, 1999) 30% of people with CD diagnosed >20yrs have additional autoimmune disorder
Slide 11 : Celiac Disease Etiology Physiological effect on intestinal system Histopathologic changes on small bowel Absence or reduced height of villi Crypt hyperplasia Proximal to distal small bowel degree of cellular changes Malabsorption of multiple nutrients
Slide 12 : Microscopic Changes in Small Bowel Normal villi Crypts hyperplasia
Slide 13 : Celiac Disease Prevalence May be most common predetermined condition in humans Found throughout world Perceived greater incidence in Europe, ? gluten in diet Recent screenings found 0.5% to 1% in general population (NIH, 2004; Dube, et al, 2005) 1/77 Swedish children (Carlsson, et al, 2001) 1/230 Italian children (Catassi, et al, 1996) 1/100 5 year old children in Denver (Hoffenberg, et al, 2003) Ethnic distribution unknown Only 3% with CD are diagnosed
Slide 14 : Celiac Disease Prevalence Higher in certain groups (Dube, et al 2005) First degree relative of person with celiac (5-22%) People with type 1 diabetes (3-6%) People with Downs syndrome (5-12%) People with symptomatic iron def. anemia (10-15%) People with osteoporosis (1-3%) ?’d in Turners and Williams syndrome, selective IgA deficiency, & autoimmune disorders (thyroiditis, hepatitis, Addison) Dermatitis herpetiformis (high correlation) Most with DH have celiac Most with celiac do not have DH
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Slide 16 : Clinical Manifestations Classic celiac disease Abdominal pain Diarrhea, constipation Gassiness, distention, bloating Anorexia Poor weight gain, FTT (but can be obese) Irritability, lethargy (NIH, 2004)
Slide 17 : Clinical Manifestations Secondary (?) to malabsorption Anemia, fatigue Vitamin deficiencies Muscle wasting Osteopenia Short stature Recurrent abortions / infertility Delayed puberty Dental enamel hypoplasia Aphthous ulcers (NIH, 2004; Fasano, 2005)
Slide 18 : Clinical Manifestations Additional symptoms (multi-system disease) Ataxia ADHD, learning disorders Hypotonia Neuropsychiatric conditions (depression, anxiety, peripheral neuropathy, headaches) Epilepsy Alopecia Vasculitis Cardiomyopathy, recurrent pericarditis Psoriasis (Fasano & Catassi, 2001; Green, 2005; NIH, 2004; Zelnik, et al, 2004)
Slide 19 : Clinical Manifestations Silent celiac disease Children who are asymptomatic but have + serologic tests and villous atrophy Autoimmune response present but no outward symptoms Low-intensity symptoms often present (Fasano, 2005) Latent celiac disease Children who have a ? serology but no intestinal mucosal changes. They may have symptoms or mucosal changes in the future. Refractory celiac disease Persistent symptoms despite gluten-free diet
Slide 20 : Long-Term Complications Typically occur after many years of CD Increased risk of non-Hodgkin lymphoma Classic celiac associated lymphoma Enteropathy associated T-cell lymphoma Gluten-free diet may reduce risk ? Adenocarcinoma of small bowel ? ? Autoimmune conditions Prevalence of autoimmune disorders related to duration of exposure to gluten (Green, 2005; Ventura, et al,1999) All-cause mortality 2X control group (Corrao, et al, 2001; NIH, 2004)
Slide 21 : Screening Who should be tested? Children with GI symptoms including IBS Family history of CD Short stature, delayed puberty Osteopenia Iron deficiency anemia, fatigue Women with infertility or recurrent fetal loss High risk groups include children with Diabetes type1, Downs, IgA deficiency ,Turners, Williams Other autoimmune conditions, i.e., thyroiditis, hepatitis Unexplained neurological symptoms ataxia, peripheral neuropathy, hypotonia, epilepsy, depression, anxiety
Slide 22 : Screening Frequent delay in diagnosis. Need to have a high index of suspicion and screen! All testing done while on gluten diet Serologic testing IgA antihuman tissue transglutaminase (tTGA) antibody assay Reported sensitivity 90%-100%, specificity 96%-97% IgA deficiency can give false negative, test also Less diagnostic in children under 5 years IgA endomysial antibody immunofluorescence (EMA) More costly, time-consuming, poor sensitivity in young children Better screen when person has diabetes Testing for HLA haplotypes 97% with DQ2 or DQ8 have CD
Slide 23 : Screening Referral to GI specialist Confirmation of serology with small bowel (SB) biopsy Need to be on gluten diet Multiple biopsy specimens from SB ? Need for biopsy if tTGA >100 u (Barker et. al., 2005) Institution of gluten-free diet (GFD) Symptom resolution Serologic tests return to normal Biopsy findings return to normal (NASPGHAN, 2004)
Slide 24 : Gluten-Free Diet Gluten, a substance in wheat and other grains, may be found in a variety of foods including breads, cakes, pasta, commercial dairy products and alcoholic beverages
Slide 25 : Treatment Gluten-free diet for life, only treatment Standard for “gluten-free” not uniform National Food Authority has two definitions Gluten-free refers to NO gluten < 200 ppm is low gluten Codex Alimentarius Guidelines < 20 ppm gluten-free, < 100 ppm tolerated Any amount of gluten may cause autoimmune response even if no symptoms (Kupper, 2005)
Slide 26 : Treatment Gluten contained in wheat, rye, barley Triticale, kamut, spelt, semolina, farina, einkorn, bulgur, and couscous Malt made from barley Malt syrup, malt extract, malt flavoring, malt vinegar Beer, whiskey Food additives Soy sauce, carmel color, bouillon, modified food starch Mono or diglycerides, emulsifiers, vegetable protein Processed foods Sausage, luncheon meat, gravies and sauces TV dinners, pot pies
Slide 27 : Treatment Oats, corn, & rice gluten-free but may be contaminated with gluten in harvesting or milling Recent testing showed high gluten levels in Quaker & Country Choice McCann’s lowest (Thompson, 2004) Communion Host made of wheat & water Low gluten host now available… http://www.connceliac.com/options.htm
Slide 28 : Treatment Nutritional deficiencies with CD B vitamins, iron, and folic acid 4% anemia at time of diagnosis GF foods not enriched Low in B vitamins, calcium, vitamin D, iron, zinc, magnesium, and fiber High incidence of osteopenia in children Other food sensitivities and allergies common May resolve with treatment of CD (Kupper, 2005)
Slide 29 : Treatment Encourage breast feeding and low / delayed gluten intake in high risk infants (Norris et. al., 2005) Monitor growth and development Secondary lactose intolerance common until gluten-free diet > 6 months Supplemental vitamins Iron, folate Calcium Fat soluble vitamins Bone density studies Re-measure tTGA after 6-12 months of treatment ? antibody titer if on GFD Reaffirm need for GFD
Slide 30 : Treatment Food Allergen Labeling & Consumer Protection Act Effective January 2006 Food manufacturers must clearly label all products for: • Eggs • Shellfish • Wheat • Fish • Soy • Peanuts, tree nuts Reduce or eliminate cross-contact of foods FDA must define gluten-free and permit voluntary labeling of “gluten-free” products by 2008 http://www.FoodAllergyInitiative.org Guidelines for Food Allergies, March 2006, Annals of Allergy, Asthma, and Immunology Food Allergy & Intolerance, Oct. 2006, Pediatric Annals
Slide 31 : Safe Foods
Slide 32 : Management C Consultation with skilled dietitian E Education about disease L Lifelong adherence to gluten-free diet I Identification & Rx of nutritional deficiencies A Access to an advocacy group C Continuous long-term follow-up by multidisciplinary team (NIH, 2004)
Slide 33 : Resources
Slide 34 : Resources Celiac Sprue Association of the USA www.csaceliacs.org Celiac Disease Foundation www.celiac.org Gluten Intolerance Organization www.gluten.net National Foundation for Celiac Awareness www.celiacawareness.org Canadian Celiac Association www.celiac.ca Columbia Celiac Disease Center www.celiacdiseasecenter.columbia.edu
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Slide 38 : Resources Gluten-free cooking Gluten-free online recipes www.glutenfreeda.com Whole Foods gluten-free shopping list http://www.wholefoods.com/healthinfo/gluten.pdf Gluten-Free Gourmet by Betty Hagman Google Celiac Support Groups http://www.enabling.org/ia/celiac/groups/groupsus.html http://www.nowheat.com/grfx/nowheat/primer/celisoc.htm
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Slide 40 : Future Directions General population screening ? Determine the consequences of “silent” celiac disease and untreated celiac What are minimum safe levels of gluten? Means of preventing immunological response to gluten Develop alternatives to gluten-free diet Determine relationship between celiac disease and automimune & neuropsychiatric conditions Screening methods for adenocarcinoma and lymphoma Investigate the quality of life of people with celiac disease
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