Unusual Association of Cystic Fibrosis and Coeliac Disease: A Rare Case Report

Abstract

Chronic malabsorption in early childhood is commonly associated with gastrointestinal disorders such as coeliac disease, but overlapping clinical features may delay recognition of other systemic causes, including cystic fibrosis. This case report describes a 2½-year-old boy who presented with chronic loose, bulky, oily, offensive stools, abdominal distension, irritability, recurrent abdominal pain, recurrent infections, and failure to thrive. His clinical examination showed pallor, sparse scalp hair, undernutrition, abdominal distension, hepatomegaly, and muscle wasting. Initial evaluation revealed microcytic hypochromic anaemia, stool fat globules, positive Sudan IV staining, reduced stool elastase, mildly elevated transaminases, and positive coeliac serology with elevated tissue transglutaminase IgA. Although the child was managed for coeliac disease, persistent steatorrhoea and poor growth prompted further evaluation. Sweat chloride testing showed a chloride concentration of 81.57 mmol/L, and CFTR testing identified a homozygous F508del mutation, supporting the diagnosis of cystic fibrosis coexisting with coeliac disease. The child was managed with a high-calorie gluten-free diet, fat-soluble vitamins, iron supplementation, pancreatic enzyme replacement therapy, and supportive care. During four months of follow-up, stool consistency, appetite, abdominal distension, general appearance, and weight improved. This case highlights the need to consider concurrent cystic fibrosis in children with confirmed or suspected coeliac disease who continue to have malabsorption and poor growth despite appropriate dietary management.