Am I a Silly Yak? Laura Zakowski, MD No financial disclosures
Patient NP 21 year old male with chronic headaches for 6 years extensively evaluated and treated Acupuncturist suggests testing for celiac disease GI symptoms include occasional gas pains, non specific abdominal pain PMHx of depression and anxiety, scoliosis, allergic rhinitis
Celiac disease objectives State varied presentations Recall the long term effects Review the tests available for diagnosis Know the basic tenets of treatment Consider screening recommendations
History Second century AD On the Coeliac Affection Samuel Gee, 1888 World War II-deficiency of bread Experimentation revealed wheat, barley and rye to be the causes Gluten: alcohol soluble fraction of wheat protein
Clinical presentation Ages 10-40 Classic GI picture Other celiac-like diagnoses IBS Gluten sensitivity Wheat allergy Lactose intolerance
What are we more likely to see? Twice the prevalance of the general population: IBS-like symptoms Osteoporosis Borderline iron deficiency Elevated LFTs Peripheral neuropathy Sainsbury et al, Clin Gastroenterol Hepatol, 2013 Rubio-Tapia, et al, Am J Gastroenterol, 2013
Other clinical presentations Psychiatric Depression, dysthymia, anxiety Neurologic Headache, ataxia Rheumatologic: OA Renal: IgA nephropathy GI: GERD, EE, IBD Gyn: reproductivity Male infertility
Diagnosis Patient should be on a gluten RICH diet Start with TTG Ab IgA High sensitivity and specificity (mid 90s) If positive perform duodenal biopsy If negative Ig A level? TTG Ab IgG? HLA DQ genotyping?
Patient NP Family history of celiac disease in his sister TTG Ab IgA negative IgA levels very low TTG Ab IgG very high EGD negative HLA testing positive
Presentations Classic Villous atrophy Malabsorption Resolution of above with diet change Atypical: minor GI symptoms Asymptomatic: incidental discovery Latent: transient symptoms
Why is it important to diagnose? Malignancy Nutrition Autoimmune disorder connection Effects on birth weight of children
Malignancy Population based study*: Followed 4732 patients and 23,620 controls Risk of death or cancer increased by about 30% (HR 1.29 with CI 1.06-1.55) GI cancer Lymphoproliferative disease West et al, BMJ, 2004
Nutritional deficiencies Iron deficiency (5-6%)* Vitamin D and calcium deficiency with osteoporosis Vitamin B and E Carroccio, Dig Dis Sci, 1998
Autoimmune disorder Prevalence relates to duration of undetected disease Most frequent association Type 1 diabetes Autoimmune thyroiditis Dermatitis herpetiformis
Treatment Consultation with dietician Education about the disease Lifelong adherence Identification and treatment of nutritional deficiencies Access to an advocacy group (Celiac Sprue Association) Continuous long term follow up by a multidisciplinary team http://consensus.nih.gov
General rules AVOID Wheat, rye, barley and maybe oats Beer Dairy products? OK Soybean, rice, corn, potatoes Wine, distilled alcohol
Chocolate chip cookies Gluten Free Baking soda Salt Butter Sugar Vanilla Eggs Chocolate chips Xanthan gum Rice flour Potato starch Arrowroot starch Gluten Rich Baking soda Salt Butter Sugar Vanilla Eggs Chocolate chips All-purpose flour
Patient NP No response to gluten free diet No change in headaches No change in anxiety or depression No change in mild, intermittent GI symptoms Lost weight Most likely diagnosis is either latent or asymptomatic celiac disease
Monitoring the response How soon should someone respond? typically in 2 weeks Use pretreatment antibody levels to monitor response
Monitoring the response Non response (after 2 years) Consider refractory sprue Consider other diagnoses: IBS Lactose intolerance Microscopic colitis Lymphoma Pancreatic exocrine dysfunction
Patient NP Onset of bloody stools with mucous Colonoscopy performed showing ulcerative colitis
Further management Perhaps check for vitamin deficiencies A, D, E, B12, copper, zinc, carotene, folic acid, ferritin, iron Watch for constipation Evaluate BMD Administer pneumovax (13,23) Rubio-Tapia, et al, Am J Gastroenterol, 2013
Screening? Not currently recommended Prevalence is increasing (1) N. European ancestry: 1:100-250 Family history association: (2) 1:22 in first degree relatives 1:39 in second degree 1:56 in symptomatic patients 1:333 in not-at-risk patients 1. Rubio-Tapia, et al, Gastroenterology, 2009 2. Fasano et al, Arch Intern Med 2003
Take home points The presentation for celiac disease is varied and may underlie a wide range of symptoms and diagnoses Malignancy is the most concerning long term effect of untreated celiac disease First step in testing is TTG Ab, IgA Use other resources to help patients after the diagnosis