Can infants with Inflammatory Bowel Disease (IBD) present with very mild symptoms?

Infants with IBD Can Present with Very Mild Symptoms

Yes, infants with inflammatory bowel disease (IBD) can present with very mild symptoms, which can make diagnosis challenging and potentially delay appropriate treatment. 1, 2

Unique Presentation of IBD in Infants and Young Children

• Young children with IBD often present with different clinical manifestations compared to older children and adults 3
• Children under 10 years of age show less architectural distortion and inflammation in the colonic mucosa compared to adolescents or adults 1
• Untreated children with ulcerative colitis (UC) may present with unusual inflammation patterns, including patchiness (21%) and relative rectal sparing (30%), which can complicate diagnosis 3, 1
• In young children with aberrant presentation of disease, ulcerative colitis should always be considered in the differential diagnosis even if histology is not typical 3

Mild Symptoms in Infantile IBD

• Infants with IBD may present with nonspecific symptoms that can be mistaken for more common conditions such as milk protein allergy or infectious gastroenteritis 4, 5
• Some children with IBD initially present with only abdominal pain and depression, leading to psychological evaluations before the correct diagnosis is made 4
• Growth retardation can be the first and sometimes only initial symptom of IBD in children for months to years before other symptoms become apparent 4
• Very young children (2-6 years old) may sometimes have milder disease or respond better to medications, resulting in decreased use of the health system 6

Very Early-Onset IBD (VEOIBD)

• Very early-onset IBD (occurring by 6 years of age) often represents a distinct entity with potentially different underlying causes 1, 2
• Children under 6 years of age with IBD may have underlying immune deficiencies requiring special consideration 3, 2
• Infantile IBD (onset before 2 years) is an extremely rare subgroup that can present with varying severity, from mild symptoms to severe disease 7
• Some cases of infantile IBD are caused by monogenic defects, such as IL-10 pathway mutations, which can lead to treatment-refractory disease 7

Diagnostic Challenges

• The gold standard for diagnosing pediatric IBD remains endoscopic evaluation of the upper and lower gastrointestinal tracts with mucosal biopsies 3
• Multiple biopsies should be taken from both abnormal and normal-appearing areas to improve diagnostic accuracy 2
• In children with severe CD, all biopsies may show chronic inflammation, including the rectal mucosa, making differentiation from UC more challenging 1
• Fecal calprotectin is a sensitive marker for monitoring disease activity and can help detect mild inflammation 2

Clinical Implications and Management

• Early and accurate diagnosis of pediatric patients is essential given the serious consequences of IBD on growth and development 3
• Exclusive Enteral Nutrition (EEN) is recommended as first-line therapy to induce remission in children with active luminal CD 3
• Children with IBD should be screened for malnutrition at the time of diagnosis and thereafter on a regular basis 3
• Regular monitoring of growth is crucial as growth retardation during medical treatment may indicate undertreatment 4

Common Pitfalls to Avoid

• Failing to consider IBD in infants with mild or nonspecific symptoms such as poor feeding, mild diarrhea, or subtle growth deceleration 4, 8
• Overlooking the possibility of UC in young children with atypical histological presentation 1
• Assuming that rectal sparing excludes UC in pediatric patients, as this feature is more common in children than adults 1
• Delaying genetic testing in infantile IBD cases that are refractory to conventional treatment 7

By recognizing that infants with IBD can present with mild and atypical symptoms, clinicians can improve early diagnosis and initiate appropriate treatment, potentially preventing disease progression and improving long-term outcomes.