Celiac disease diagnosis & referral.pptx

Celiac disease diagnosis & referra

1. CLINICAL CASES

2. 25 years old young male is evaluated for long standing history of loose stools , bloating and weight loss . His medical history is otherwise unremarkable . He reports no other symptoms. Laboratory investigations: Hb 8.5 mg/dl , MCV 65 . Albumin was 3.0mg/dl , Ferritin 6 ng /dl

3. 25 year female presented with history of post prandial bloating , dyspepsia . Recently she noticed easy fatigability and exterional dyspnea . She also gave history of secondary amenorrhea and recurrent oral ulcers. On examination, she looked pale. Other examination was unremarkable . Labs : Hb 7.0 , MCV 65 . Other baseline labs were within normal limits. Ultrasound abdomen was normal . Q what is the most appropriate test to perform next? Q what is the most likely diagnosis?

4. Celiac disease screening and referral for d2 biopsy

5. Celiac disease is an autoimmune disorder of the gastrointestinal tract caused by exposure to dietary gluten, which is a storage protein in wheat, rye, and barley. 1 It is characterized by chronic inflammation of the small intestinal mucosa, which leads to atrophy of the intestinal villi and subsequent malabsorption . Celiac disease can produce a variety of manifestations, and it may develop at any age. It is also known as celiac sprue , nontropical sprue , gluten-induced enteropathy , or gluten-sensitive enteropathy .

6. Clinical presentation Multi-symptom, multi-system disorder. Direct symptoms: Abdominal cramping , bloating distension of abdomen, chronic diarrhea , chronic constipation, fatty/foul smelling stool and unexplained weight loss. Indirect symptoms: (extra-intestinal symptoms) fatigue, lack of energy , iron deficiency anemia , infertility , recurrent history of miscarriages , osteopenia or osteoporosis , migraine headache, dermatitis herpetiformis , recurrent oral ulcers .

7. Who should be tested for celiac disease : Patients with typical gastrointestinal symptoms. Extraintestinal symptoms Those patients with increased risk (Type I Diabetes , Autoimmune Thyroid Disease , 1 st degree family member with celiac disease).

8. DIAGNOSTIC TOOLS • CD-specific Antibody Tests • Histological Analysis of Duodenal Biopsies • HLA Testing for HLA-DQ2 and HLA-DQ8

9. Serum Antibody Assay Serologic studies that aid in the diagnosis of celiac disease. IgA endomysial antibody. IgA and IgG tissue transglutaminase antibody ( IgA and IgG tTg ). IgA and IgG Gliadin Antibody ( IgA AGA AND IgG AGA) Deamidated Gliadin Peptide (DGP)

10. Diagnostic Testing Preferred test : IgA anti-TTG (most sensitive) IF IgA level normal : 95 % sensitive /specific Poor test if IgA –deficient If IgA deficient: Consider IgG -DGPS or IgG-TG2 would be preferred test . if Anti-TG has low titre (<2 times the ULN ) so testing for other antibodies igA EMA may be used as confirmatory test . Most specific test

11. Confirmatory Test Histological evaluation of biopsies from the small intestine is the cornerstone of coeliac disease diagnosis.  As coeliac disease causes patchy involvement of the proximal small intestine, multiple biopsies are recommended ( eg two from the first and four from the second part of the duodenum).

12. GENTIC TESTING  Clinical Scenarios When  HLA DQ2/8  Genotyping Can Be Useful When coeliac disease serology and/or small bowel examination is inconclusive or equivocal When there has been failure to improve on a gluten-free diet When a person has commenced a gluten-free diet prior to assessment by serology or small bowel examination and are unwilling or unable to undertake a gluten challenge prior to investigation In patients clinically assessed to be at higher risk of coeliac disease in order to exclude those where further testing for coeliac disease is not required

13. Consider Endoscopy and Duodenal Biopsy Even If Celiac Disease Serology Is Negative : 1 chronic diarrhea Diarrhoea with featrues of malabsorption especially weight loss Iron deficiency anemia in absence of other causes . GI symptoms with a family history of CD Failure to thrive in children Skin biopsy proven DH .

14. TREATMENT The only treatment for celiac disease is to follow a gluten-free diet—that is, to avoid all foods that contain gluten