Celiac disease : summarized

Celiac disease

Dr Nimrah Shehzadi

          Immune mediated systemic disorder elicited by gluten and related prolamines in genetically susceptible individuals.

Genetics & pathogenesis :

Concordance in monozygotic twins :100%

Strongest association with HLA haplotypes DQ2 and DQ8.

Clinical presentation:

6 months to 2 yrs of life :

·         Vomiting

·         Chronic diarrhea

·         Abdominal distension

·         Failure to thrive

·         Anorexia

·         Muscle wasting

·         Irritability

·         Occasionaly constipation,rectal prolapse or intussusception

>2 yrs and older children : (can present in adult age also)

·         extraintestinal manifetations :

·         Iron deficiency anemia non responsive to iron therapy

·         Skeletal :Rickets,osteoporosis,arthritis,arthralgia,enamel hypoplasia of teeth

·         Muscular atrophy

·         Neurological : periphery neuropathy,epilepsy,irritability,cerebral occipital calcifications, ataxia

·         Endocrinal :short stature,delayed puberty ,Secondary hyperparathyroidism

·         Dermatological : dermatitis herpetiformis,erythema nodosum,alopecia areata.

·         Respiratory:idiopathic pulmonary hemosiderosis

·         Cancers :Non-hodgkin lymphoma and enteropathy associated T cell lymphoma.

Associated disorders:

·         Autoimmune thyroiditis

·         Type 1 diabetes

·         Addisons's disease

·         Sjogren syndrome

·         Autoimmune cholangitis

·         Autoimmune hepatitis

·         Primary biliary cirrhosis

·         Downs,Williams and turner syndrome

·         Selective IgA deficiency

Diagnosis :

·         Serological testing : Initially get Anti-Tissue transglutaminase 2 IgA antibody levels (anti TTG 2-IgA) levels. If levels are high such that >10 times of normal, then send endomysial antibody levels and HLA .Both of which if positive confirm the diagnosis of Coeliac disease. However, if anti TTG2-IgA levels are low, then get total IgA levels ( which can be low in coeliac patients) and hence TTG2-IgA levels can come out low despite the patient having coeliac disease. In case of  normal IgA, with high TTG2-IgA levels but <10 times the normal , jejunal biopsy is done at multiple sites for making the diagnosis.

Biopsy and antibody levels should always be sent once patient is on gluten diet.
Withdrawal of Gluten diet with improvement of symptoms , or in case symptoms are improved and reintroducing gluten that then causes the symptoms also confirms the diagnosis.

·         Genetic testing:for HLA DQ2& DQ8 detection

·         CBC :anemia

·         Iron studies

·         Duodenal biopsy:villous atrophy and flat mucosa

·         Endoscopy :to visualize bowel for intestinal atrophy

·         S.ca and vit D levels

·         MRI brain: occipital calcifications

Treatment:

·         Lifelong strict adherence to gluten free diet(<50mg /day)

·         Gluten free vitamins and supplements (calcium,folate,iron,vitamin b12,vit D,vitamin K,zinc)

·         Steroids : to control intestinal inflammation in case of coeliac crisis (severe fluid electrolyte imbalances, infection, hypo/hyperglycemia,hypoalbuminemia)

Follow up :

·         Assessment of symptoms

·         Physical examination for growth parameters

·         Adherence to gluten diet

·         TG2 antibody levels: reduced levels indicate gluten free diet adherence

Assessment and investigation for other autoimmune disorders.