Celiac Disease Flashcards
Celiac genetics
HLA-D2Q (90%) & HLA-DQ8 (10%) gene
must be present to have disorder
must also have one of 39 other non HLA genes to develop celiac
higher incidence in first-degree relatives, monozygotic twins, HLA-identical siblings
seroconversion to CD may occur at any point if gene is present
enviornmental factors
GI infections
lack of BF
timing of gluten introduction
Exposure to gluten protien in succeptable individuls results in
triggers infl cascade, leads to villous atrophy, crypt hyperplaisa, initiated the producation of antigliadin antibody (AGA), transglutamanase (TTG) and antiendomysium antibody (EMA)
G&D
usually not growing
leads to FTT, short stature, weight loss
weight gain can be a sympt in older children
associated genetic syndromes
DS, turner, williams
Infections exposure RF
Rotavirus
Enterovirus
toxins that change mucosa
autoimmune disorders RF
fam hx DM1
addisons
lupus
RA
autoimmune thyroiditis
prognosis
excellent with diagnosis and treatment
deadly without treatment
4% of diarrheal deaths are undiagnosed celiac
may be asymptomatic
s/s in young children
irritability - fussy infant with suboptimal growth
FTT
s/s in older children
fatigue, joint pain, short stature, wt loss or gain, deratitis herpetiforms, delayed puberty, decresed bone density, dental enamel defects, iron def anemia, low serum albumin levels, recurrent infections, easy brusing, depr/anxiety, hair loss, irr menses, mouth ulers, numbness/tingling in extremities
stools
foul smelling
oily
sticks to toilet when flushed
Adverse effects if not properly treated
osteoporosis, kyphosis, fractures, splenic malfunction, infertility, repeat pregnancy loss, LWB offspring, UC, neurologic impairment, intestinal lymphoma
celiac crisis
severe diarrhea
electrolyte imbalance
hypoproteinemia
vascular compromise
celiac labs
always reach out to GI if unsure what labs to order
Pt must be actively eating gluten and have functioning immune system for acurate results
CBC- anemia
CMP- detect low serum albumin levels
PT, B12, Vit D, TTG (tissue transglutanimase), total serum IGA level
Additional lab for kids <2 years
DGP-IgA
If TTG is questionable then order
antiendomysium immunoglobulin A (EMA) antibody measurements
What if serologic markers are positive?
refer to GI for biopsy
definite diagnosis requires endoscopic duodenal tissue biopsy
Negative serologic markers but high suspicion refer to GI, biopsy still considered
How often are labs drawn after diagnosis?
every 6 months until normalized, then annually
Treatment
Life-long completely gluten free diet
FDA definition of GF
Item contains no ingredients that:
- are gluten containg grains (spelt wheat)
- derived from grain which gluten hasnt been removed (wheat flour)
- derived from something that gluten has been removed but still has > 20 PPM or gluten remaining
-
One slice of bread contains how much gluten
1600 mg
patients can tolerate 10-50 per day
Results of gluten free diet
reverses malabs, nutr def & sympotms, decreases morbidities
Intestinal mucosa healing begins and serum antibody levels normalize within a few months of beginning the diet
Negative S/E of gluten free
obesity, new onset insulin resistance, meatbolic syndrome, weight gain, constipation, risk of toxicity with high quantities of some products such as arsenic in rice.
Not all GF products are fortified, can result in def of B vitamins, folate and iron
GF and labeling of meds
no requirements to list gluten on meds
talk to pharmacist or manufacturer
beyond celiac- resource on gf meds for families
