2. General Learning Outcomes:
Learn the pertinent aspects of the history and physical exam relative to
Celiac disease.
To learn the presenting signs and symptoms of Celiac disease.
Learn the patho-physiology ,diagnosis, differential diagnosis and
treatment of Celiac disease.
3. Specific Learning Objectives
By the end of this one hr lecture The Medical student will be able to:
To define Celiac disease
Pathogenesis of Celiac disease
Genetics of Celiac disease
Clinical manifestation Celiac disease
Laboratory and histo-pathological findings
Differential diagnosis
Treatment of Celiac disease
4. Celiac Disease
Celiac disease is an autoimmune disorder of the small intestine that occurs in
genetically predisposed people of all ages from middle infancy.
Celiac disease Is caused by a reaction to gliadin, a gluten protein found in wheat,
rye and barley.
This condition has several other names including:
celiac sprue,
non-tropical sprue,
endemic sprue,
gluten-sensitive enteropathy
5. Epidemiology
The Prevalence Of Clinically Diagnosed Disease Is 0.05–0.27%
Prevalence in children 0.33 and 1.06%
Prevalence in adults 0.18–1.2%
6. Pathophysiology
Celiac disease appears to be polyfactorial, both in that more than one
genetic factor can cause the disease and also more than one factor is
necessary for the disease to manifest in a patient.
7. 1. Genetics
The vast majority of celiac patients have one of two types of HLA
DQ
Two of these variants—DQ2 and DQ8—are associated with celiac
disease
The reason these genes produce an increase in risk of celiac disease
is that the receptors formed by these genes bind to gliadin peptides
more tightly than other forms of the antigen-presenting receptor.
8. 2. Tissue Transglutaminase
Anti-transglutaminase antibodies to the enzyme tissue
transglutaminase (tTG) are found in an overwhelming majority of
cases.
Tissue transglutaminase modifies gluten peptides into a form that
may stimulate the immune system more effectively.
9. 3. Villous Atrophy & Malabsorption
The inflammatory process, mediated by T cells, leads to disruption
of the structure and function of the small bowel's mucosal lining, and
causes malabsorption as it impairs the body's ability to absorb
nutrients, minerals and fat-soluble vitamins A, D, E and K from
food.
Lactose intolerance may be present due to
The decreased bowel surface.
Reduced production of lactase but typically resolves once the condition is
treated.
10. 4. Risk Modifiers
Infection by Rota virus
Human intestinal adeno virus
Timing of the exposure to gluten in childhood is an important risk
modifier
Prolonging breastfeeding until the introduction of gluten-containing
grains into the diet is associated with a 52% reduced risk of
developing celiac disease in infancy
11. Signs & Symptoms
1. GIT:
Diarrhoea which is pale, voluminous and malodorous
Abdominal pain and cramping, bloatedness with abdominal distention
lactose intolerance
adenocarcinoma and lymphoma of small bowel
Ulcerative jejunitis and stricturing
Celiac Crisis and the Role of Steroid
12. 2. Malabsorption-related
Weight loss
Fatigue
Anemia
Abnormal coagulation due to deficiency of vitamin K,
Bacterial overgrowth
Calcium and vitamin D malabsorption (and compensatory secondary
hyperparathyroidism) may cause osteopenia (decreased mineral content of the
bone) or osteoporosis (bone weakening and risk of fractures)
13. 3. Miscellaneous
IgA deficiency
an increased risk of infections and autoimmune disease
Dermatitis herpetiformis; this itchy cutaneous condition has been linked to a
transglutaminase enzyme in the skin, features small bowel changes identical to
those in celiac disease and occurs more often (in 2%) in patients with celiac
disease.
Epilepsy, ataxia (coordination problems), myelopathy, peripheral neuropathy,
and schizophrenia
Growth failure and/or pubertal delay
Miscarriage and infertility.
Hyposplenism (a small and under active spleen)
17. Routine Lab Test
Full blood count
Electrolytes
Calcium
Vitamin B12 and
Folic acid
levels Prothrombin time
18. Serologic Test
Tissue transglutaminase (TTG) antibodies
Antibodies against endomysium
Antibodies against reticulin (ARA) or gliadin (AGA)
Guidelines recommend that a total serum IgA level is checked in parallel, as
coeliac patients with IgA deficiency may be unable to produce the antibodies on
which these tests depend
20. Histopathology
The classic pathology changes of celiac disease in the small bowel are
categorized by the "Marsh classification"
Marsh stage 0: normal mucosa
Marsh stage 1: increased number of intra-epithelial
lymphocytes, usually exceeding 30 per 100
enterocytes
Marsh stage 2: proliferation of the crypts of Lieberkuhn
Marsh stage 3: partial or complete villous atrophy
Marsh stage 4: hypoplasia of the small bowel architecture
22. Treatment
By diet:
Presently, the only effective treatment is a lifelong GLUTEN FREE DIET
Rice, soyabean, potato and corn flour are safe
No medication exists that will prevent damage, or prevent the body from
attacking the gut when gluten is present.
Strict adherence to the diet allows the intestines to heal, leading to resolution of
all symptoms in most cases and, depending on how soon the diet is begun, can
also eliminate the heightened risk of osteoporosis and intestinal cancer
23. Refractory Disease
This May be Because
The disease has been present for so long that the intestines are no longer able to heal on
diet alone
The patient is not adhering to the diet
Because the patient is consuming foods that are inadvertently contaminated with gluten
In this case steroids and immuno-suppresents should be considered . Also Steroid is to
be given in celiac crisis
24. Complications
Intestinal T-cell lymphoma
Carcinoma of small intestine
Ulcerative jejunitis
Complications of nutritional deficiency
Anemia
Osteoporosis
Osteomalacia
Peripheral neuropathy
25. Prognosis
Prognosis is Excellent if properly diagnosed and treated
In some patients it becomes refractory to gluten withdrawal and it carries a poor
prognosis
These patients may have developed ulcerative jejunitis or T-cell lymphoma(10%
of patients)