A 12-year-old female presents with cramping abdominal pain, a ten pound weight loss, diarrhea, and bloody stools. Physical examination is remarkable for oral aphthous ulcers, mild right lower quadrant tenderness, and perianal skin tag at six o’clock position. Further laboratory work up reveals anemia (hemoglobin 7.2 g/dL) and elevated erythrocyte sedimentation rate (41 mm/hr). She was referred to pediatric gastroenterology and underwent an esophagogastroduodenoscopy and colonoscopy, which was visually and histologically remarkable for gastritis, duodenitis, pan-colitis, and terminal ileitis (Figure 59-1 and 59-2). She was diagnosed with Crohn disease.
Inflammatory bowel disease (IBD) refers to two chronic conditions of the gastrointestinal tract: Crohn disease (CD) and ulcerative colitis (UC), that frequently have their presentations in the late childhood and adolescence. IBD is one of the most common chronic diseases of childhood and adolescents.
Pediatric-onset inflammatory bowel disease (IBD) has been significantly increasing in prevalence and incidence worldwide over the past few decades.1
It is currently estimated that as many as 1.4 million persons in the US and 2.2 million persons in Europe suffer from these diseases.2 More than 20 percent of patients present during childhood and diagnosed before the age of 10 years and fewer than 5 percent diagnosed before age 5 years.3
The mean age at diagnosis of pediatric IBD in the US is 12.5 years.3
IBD is characterized by chronic inflammation of the gastrointestinal tract and encompasses two entities: CD and UC.
The pathogenesis of IBD remains elusive, but involves an interaction between a genetic predisposition, defects of host immunoregulation, environmental factors, and an imbalance in the intestinal microbiota (dysbiosis). Dysbiosis (also called dysbacteriosis) is considered crucial for the development of chronic intestinal inflammation.
Up to 25 percent of children who develop IBD have a positive family history of IBD. Children who have a first-degree relative affected by either UC or CD have a 10 to 13 times higher risk for developing IBD.4
Monozygotic twin concordance is approximately 50 percent for CD and nearly 20 percent for UC.5
Genetic linkage analyses and genome-wide association studies have identified numerous IBD candidate genes. NOD2/CARD15 gene, located on chromosome 16q has been associated with CD.
Anti-Saccharomyces cerevisiae antibody (ASCA) is found in 50 to 60 percent of patients who have CD.
Perinuclear antineutrophil antibody (pANCA) is detected in approximately 70 percent of patients with UC.
Both CD and UC have overlapping features, but the cardinal symptoms of CD are:
Cramping abdominal pain, which can be diffuse or localized to the right lower quadrant.
Diarrhea (urgency, tenesmus, and nighttime awakening for bowel movements).
Weight loss.
Recurrent aphthous-stomatitis.
Growth failure.
Perianal disease (tags, fissures, fistulae, and abscesses).
The classic presentation of UC is diarrhea, hematochezia, and abdominal cramping associated with fecal urgency.
One third of patients with IBD can present with extraintestinal manifestations prior to manifesting intestinal symptoms (Table 59-1).
| Liver | Nonspecific elevation of aminotransferases, autoimmune hepatitis, primary sclerosing cholangitis (UC > CD) (Figure 59-5), cholelithiasis, fatty liver disease |
| Joints | Arthralgias, arthritis (Figure 59-6), ankylosing spondylitis, sacroiliitis |
| Skin | Erythema nodosum (Chapter 152), pyoderma gangrenosum (Figure 59-7), aphthous ulcers (Chapter 40) |
| Eye | Uveitis (Chapter 13), episcleritis, keratitis |
| Bone | Digital clubbing (hypertrophic osteoarthropathy), osteopenia, osteoporosis, aseptic necrosis |
| Pancreas | Acute pancreatitis |
| Renal | Nephrolithiasis (oxalate stones) |
| Hematologic | Anemia (iron deficiency, folate deficiency, vitamin B12 deficiency, or autoimmune hemolytic anemia), thrombocytosis, thrombocytopenic purpura |
| Vascular | Hypercoagulability (thrombosis, thrombophlebitis, thromboembolism) |
| Endocrine | Growth failure, pubertal delay |
| Malignancy | Dysplasia, increased risk of colon cancer |
| Other | Recurrent fevers, malaise, anorexia |
CD can involve any portion of the gastrointestinal tract from the mouth to anus. It predominately affects the distal ileum and colon and can present in a patchy or discontinuous pattern. The inflammation is typically transmural and can be associated with intestinal granulomas (pathognomonic), strictures, fistulas, and abscesses (Figures 59-1 and 59-2).
UC involves the rectum and colon in a continuous pattern and the inflammation is typically confined to the superficial mucosa. Crypt abscesses are common in UC (Figure 59-3).
FIGURE 59-2
A. Normal colonic mucosa is shiny, with normal folds and normal vascular pattern. B. Severe Crohn disease with deep ulcerations, erythema, friability, and patchy cobblestoning pattern with exudates. (Used with permission from Nisha Patel, MD.)
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