Celiac disease

Question 1

Intestinal and extra-intestinal features of celiac disease 1

Answer 1

• An immune-mediated disease induced by the ingestion of proteins (prolamines) present in some grains (wheat, rye, barley)
• Can begin as early as 6 mo, but commonly presents in a adolescence or adulthood
• Sx: chronic/recurrent diarrhea, ab distention/pain, anorexia, failure to thrive/weight loss, N/V, constipation, irritability (esp after meals)
• Fat and thus fat soluble vitamin malabsorption
• Extraintestinal manifestations: MSK (short stature, osteoporosis, rickets/osteomalacia), dermatitis herpetiformis, reproduction (infertility, delayed onset of puberty), anemia (Fe and/or folic acid def), CNS (epilepsy, behavioral changes, ataxia, peripheral neuropathy)

Question 2

Intestinal and extra-intestinal features of celiac disease 2

Answer 2

• Dermatitis herpetiformis is pathognomonic for celiac disease, does not usually occur in young children and only in 5% of CD pts >15yo
• DH: erythematous blisters symmetrically located on face, elbows, back, butt, knees
• CD pts also get many aphthous ulcers of the oral mucosa, dental enamel defects
• Conditions associated w/ celiac disease: DM T1, thyroiditis, primary biliary cirrhosis, down syndrome, IgA deficiency

Question 3

Pathology of celiac disease 1

Answer 3

• Endoscopically: can often look normal, sometimes can see scalloping and/or modularity of the duodenum
• Under dissecting microscope there is villous atrophy (mucosa looks shaved instead of like shag carpet)
• LM: total or partial villous atrophy, crypt hyperplasia and increased intraepithelial lymphocytes (IEL)
• Crypt hyperplasia: the size of crypts increases, but the number of crypts decreases
• Nl crypt:villi ratio is 4:1, but eventually becomes 1:1 in celiac disease

Question 4

Pathology of celiac disease 2

Answer 4

• Villi undergo atrophy, first loosing sedation, then reduced fold number and flattening of folds, and eventually total loss of villi (only crypts left)
• Complications of untreated celiac disease: infertility, chronic disease, osteoporosis/osteopenia fractures, other autoimmune diseases, increased mortality, high risk for enteropathy-associated lymphoma (EATL)

Question 5

Testing and screening for celiac disease 1

Answer 5

• Antigliadin Abs (IgG and IgA) are not used unless pt is very young child or IgA def
• Aniendomysial IgA (EMA): very good tests but not used b/c expensive, operator-dependent, time consuming
• Tissue Transglutaminase (tTG): is the autoantibody (IgA) of celiac disease, thus is used for screening test in IgA competent pts (young children do not make tTG, will be positive in other autoimmune d/o)
• Genetic testing (pt doesn’t have to be on gluten-containing diet): 95% of celiac pts have DQ2 HLA alleles

Question 6

Testing and screening for celiac disease 2

Answer 6

• Must do intestinal biopsy to confirm Dx of celiac disease (or biopsy DH skin)
• Current guidelines in screening (when to refer to biopsy): positive EMA is celiac disease UPO, positive tTG means autoimmune d/o active (likely celiac disease) so get biopsy, positive antigliadin IgG in an IgA deficiency pt, elevated antigliadin Abs in very young

Question 7

What is safe to eat for celiac disease

Answer 7

• There is both clinical and histo improvement once on gluten free diet
• Gluten found in wheat, rye, barley, and since oats are milled w/ wheat it is in most oat products
• What is safe to eat: buckwheat, corn, flax, oats that are not contaminated w/ wheat, rice, potato, quinoa, beans, nuts, seeds