A 14-year-old male child from Rajasthan presented with chronic diarrhoea to Dr. Shaivali Joshi, a paediatrician in Mumbai. The child complained of loose stools 4-5 times a day and also had a history of anaemia since infancy. Examination revealed that he had severe platonychia and koilonychia, suggestive of iron-deficiency anaemia. There was no enlargement of the liver, spleen or lymph nodes. Also, failure to thrive or FTT was not severe. While his liver and renal profiles and thyroid function tests were normal, his haemoglobin levels were indeed very low at 3.5-4. 5 g/dl with microcytic hypochromic anaemia, indicative of iron deficiency anaemia. Haemoglobinopathies were ruled out by performing haemoglobin electrophoresis to identify abnormal haemoglobin. Folic acid and B12 levels were also within normal range. Dr. Joshi was really concerned regarding the anaemia for which there seemed to be no obvious cause. She therefore referred the patient to Dr. Swati Kanakia, a paediatric hemato-oncologist at Lilawati Hospital. After reviewing case history and based on tests conducted, Dr. Kanakia suspected the diagnosis to be celiac disease based on the chronic diarrhoea and anaemia.
Celiac disease is an autoimmune disorder that primarily affects the small intestine upon intake of gluten in genetically predisposed individuals. HLA-DQ2 haplotype gene (DQA1 0501/DQB1 0201) has been shown to be present in 90% of patients with celiac disease, while HLA-DQ8 haplotype (DQA1 0301/DQB1 0302) is present in 5% of patients. Individuals with the HLA-DQ8 haplotype may not develop celiac disease and additional factors such as gluten intake and environmental factors such as alterations in the intestinal microbiota, antibiotic use and infections can play a role.
A series of tests were done to confirm whether the child was suffering from celiac disease. Immunoglobulin studies showed normal total IgG, IgA, IgM and IgE. Tissue Transglutaminase (tTG) IgA was negative, and tTG IgG was positive. Gastric fundus biopsy showed mild chronic gastritis. Duodenum biopsy showed moderate inflammation with infiltrating lymphocytes, plasma cells and few eosinophils in the lamina propria, and the majority of the villi were flat with elongated crypts. These findings are diagnostic of celiac disease.
The damage to the intestinal villi results in malabsorption, affecting growth and development in the child. Consequently, some of the hallmarks of celiac disease are stunted growth and pot-belly, which this child did not present with. Other common clinical signs include diarrhoea, abdominal pain, osteoporosis, neurologic abnormalities, increased liver enzyme levels, as well as skin disorders. The haematological manifestations of celiac disease are iron-deficiency anaemia, folate and vitamin B12 deficiency, micronutrient deficiencies, thrombocytopenia, thrombocytosis, leukopenia, neutropenia, splenic dysfunction and IgA deficiency. In fact, the child did not present several common clinical signs associated with celiac disease. Dr. Kanakia stresses that ‘celiac disease can present in different ways, and it is important to think of it in cases of chronic anaemia, with or without chronic diarrhoea or any of the myriad symptoms associated with celiac disease’. Celiac disease can be atypical, silent, latent or even refractory or non-responsive, and can be associated with other autoimmune disease or other conditions, including diabetes, thyroid disorders, liver disease, psoriasis, systemic lupus erythematosus and rheumatoid arthritis.
There is no cure for celiac disease and management involves a diet that is completely gluten-free. Gluten is present in wheat, rye and barley, and these must be completely avoided. The child was immediately started on a gluten-free diet and has been doing well over the past 6 months. His current haemoglobin levels have increased to 11 g/dl and he is not troubled with diarrhoea anymore.
Gluten is present in one of North India’s key dietary ingredients — wheat. A recent study has shown that while the incidence of HLA-DQ 2/8 is the same in the North Indian and South Indian population, the incidence of celiac disease is much higher in North India (close to 1% of the population) than in South India (about 0.01%). This is likely to be due to the predominantly high daily wheat intake in the North Indian population. Breads also have a very high gluten content, and with the advent of fast food joints, bread intake has considerably increased, and this is likely to affect the incidence of celiac disease as well. It will be important to consider how our lifestyles may impact the incidence of celiac disease in the near future. Our lifestyles are changing, and it remains to be seen if or when celiac disease joins the infamous club of lifestyle diseases.