Marco Gasparetto, MD FRCPCH
Consultant Paediatric Gastroenterologist
Paediatric gastroenterology, hepatology and nutrition encompasses a wide spectrum of diseases and conditions that affect the function of the intestine and liver, and potentially threaten the child’s general health if not treated timely and appropriately.
One of the main aspects that require monitoring and optimisation in the paediatric age is the nutritional status, that is fundamental for the child’s growth and general health.
The training of a paediatric gastroenterologist-hepatologist starts by achieving all the competences and skills of general paediatrics in the first years, with a subsequent sub-specialist focus on the management of diseases of the gastro-intestinal tract and the liver, including managing children with specialist nutritional needs, during the final years of training.1
Paediatric gastroenterology and hepatology comprises both common and very rare clinical scenarios.
Babies and infants with colics and/or reflux symptoms are generally managed by the general paediatrician. These symptoms are most often benign, they mostly depend on a degree of immaturity of the gastro-intestinal tract and they tend to improve and resolve spontaneously with age and growth, from around the first birthday. Red flags that prompt an assessment by a paediatric gastroenterologist are faltering growth (failure to thrive) and the presence of blood in the vomit or stools 2.
Cow’s milk protein allergy is a frequent cause of gastro-intestinal symptoms in babies and infants. Moderate and severe presentations require the use of special formulas where cow’s milk proteins are extensively hydrolysed or fully split into the single aminoacids. In the majority of cases, the Mum of a child with suspected cow’s milk protein allergy can continue breast feeding by starting a strict dairy-free diet. The majority of children with cow’s milk protein allergy develop tolerance and manage to reintroduce at least some amounts of dairy after their first birthday. During the reintroduction phase, the input of a paediatric dietitian is key for the families of those children who initially presented with moderate-severe symptoms 3.
Coeliac disease is an immune-mediated condition triggered by gluten. The only available treatment is a strict gluten-free diet by using naturally gluten-free food types or artificial gluten-free products that mimic naturally gluten-containing food.
There is extensive research ongoing that aims to gain further insight of the underlying mechanisms and possible new treatments. In Europe, 1 in 100 children suffers from coeliac disease. Over the past decades, gluten-free menus and options have become increasingly more available in school canteens and restaurants in view of the high social demand 4.
Inflammatory bowel diseases are chronic immune-mediated conditions that include Crohn’s disease and ulcerative colitis. Patients develop ulcers in different tracts of their digestive system, which causes symptoms including abdominal pain, weight loss, chronic diarrhoea and presence of blood and mucous in the stools, with a huge impact on the personal and social life of the young persons affected. If not treated timely and optimally, these conditions can expose the young patients to significant risks. The management of inflammatory bowel diseases is complex and requires a multi-professional approach including clinical nurse specialists, paediatric dietitians, radiologists, pharmacists and histo-pathologists, alongside the paediatric gastroenterologist 5,6.
From a liver point of view, steatosis (i.e. fat tissue in excess within the liver) is worryingly more and more frequent in the paediatric age, due to increasing number of overweight and obese children. The lack of a prompt intervention with adjustment of life style, diet and daily physical activities, results in evolution to steato-hepatitis (inflammation of the liver caused by an excess in fat tissue) and then fibrosis and cirrhosis, irreversible stages that can lead to the need of a liver transplant toward the adult age 7.
Liver transplant in young children requires vertical, sub-specialist knowledge and skills, and a multi-disciplinary team with centralised expertise. The main conditions that lead to a liver transplant in the first years of life are biliary atresia (a malformation of the biliary tree caused by incomplete maturation during pregnancy), auto-immune liver diseases and metabolic conditions 8.
Another category of babies and young children with special needs requiring significant intervention are neonates who undergo extensive small bowel resection after birth (due to necrotising entero-colitis, volvulus and other causes of intestinal damage during pregnancy/birth). These babies with a post-resection “short gut” are not able to absorb nutrients to achieve adequate calorie intake and growth. They therefore depend on parenteral nutrition, i.e. feeds administered daily through a venous central line, while the gut receives very small amounts of special formulas for gradual stimulation. The process of intestinal rehabilitation is long and complex, and generally keeps these babies and infants in hospital for many months, before they can be discharged home safely. The majority of them will need to continue on some longer term parenteral nutrition once discharged home. There are risks related to the use of parenteral nutrition through a central line, including sepsis, thrombosis and liver disease.
With regards to more rare conditions within paediatric gastroenterology, hepatology and nutrition, the European society (ESPGHAN, www.espghan.org), the British society (BSPGHAN, https://bspghan.org.uk/) and the Italian society (SIGENP, https://sigenp.org/) offer high quality resources and information material on their web sites.
In conclusion, the paediatric gastroenterologist-hepatologist looks after children with a very wide spectrum of conditions, more or less frequent, acute or chronic, that often require parallel input from a number of other professionals in order to achieve adequate nutrition, growth and quality of life for the young patients affected.
1 D’Antiga L, et al. European Society for Gastroenterology, Hepatology, and Nutrition Syllabus for Subspecialty Training. J Pediatr Gastroenterol Nutr 2014; 59(3): 417-422.
2 Rosen R, et al. Pediatric Gastroesophageal Reflux Clinical Practice Guidelines: Joint Recoomendations of the North American Society for Paediatric Gastroenterology, Hepatology and Nutrition and the European Society for Paediatric Gastroenterology, Hepatology and Nutrition. J Pediatr Gastroenterol Nutr 2018; 66: 516-554.
3 Koletzko S, et al. Diagnostic approach and management of cow’s milk protein allergy in infants and children: ESPGHAN GI committee practical guidelines. J Pediatr Gastroenterol Nutr 2012; 55(2): 221-9.
4 Husby S, et al. European Society Paediatric Gastroenterology Hepatology and Nutrition Guidelines for Diagnosing Coeliac Disease 2020. J Pediatr Gastroenterol Nutr 2020; 70(1): 141-156.
5 Van Rheenen P, et al. The Medical Management of Paediatric Crohn’s Disease: an ECCO-ESPGHAN Guideline Update. J Crohns Colitis 2020. Online ahead of print.
6 Turner D, et al. Management of Paediatric Ulcerative Colitis, Part 1: Ambulatory Care – An Evidence-based Guideline From European Crohn’s and Colitis Organization and European Society of Paediatric Gastroenterology, Hepatology and Nutrition. J Pediatr Gastroenterol Nutr 2018; 67(2): 257-291.
7 Vajro P, et al. Diagnosis of Non-alcoholic Fatty Liver Disease in Children and Adolescents: Position Paper of the ESPGHAN Hepatology Committee. J Pediatr Gastroenterol Nutr 2012; 54(5): 700-13.
8 Squires RH, et al. Evaluation of the Pediatric Patient for Liver Transplantation: 2014 Practice Guideline by the American Association for the Study of Liver Diseases, American Society of Transplantation and the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition. J Pediatr Gastroenterol Nutr. 2014; 59(1): 112-31.
9 Mihatsch WA, et al. ESPGHAN/ESPEN/ESPR/CSPEN guidelines on pediatric parenteral nutrition. Clin Nutr 2018; 37(6): 2303-2305.