Inflammatory Bowel Disease (IBD) for the USMLE Step 3 Exam
Overview
- Inflammatory Bowel Disease (IBD) encompasses Ulcerative Colitis (UC) and Crohn’s Disease (CD), both marked by chronic, relapsing inflammation of the gastrointestinal (GI) tract.
- UC affects only the colon, while CD can involve any part of the GI tract, most commonly the terminal ileum and colon.
Pathophysiology
- Immune dysregulation: Abnormal immune response to intestinal microbiota in genetically predisposed individuals.
- UC: Inflammation is confined to the mucosa and submucosa.
- CD: Inflammation is transmural, affecting all layers of the bowel wall.
- Genetics: Mutations such as NOD2 in Crohn’s disease, with familial clustering.
- Environmental triggers: Smoking worsens CD but is protective in UC.
- Microbiome: Dysbiosis (altered gut microbiota) plays a role in disease development.
Ulcerative Colitis (UC)
- Location: Confined to the colon, always involves the rectum, and extends proximally in a continuous manner.
- Histology: Inflammation is limited to the mucosa and submucosa.
- Clinical presentation:
- Bloody diarrhea, often with LLQ pain and tenesmus.
- Complications:
- Toxic megacolon: Acute colonic dilation with risk of perforation.
- Colon cancer: Increased risk after 8–10 years of extensive colitis.
Crohn’s Disease (CD)
- Location: Can affect any part of the GI tract, commonly the terminal ileum and proximal colon, with skip lesions (discontinuous inflammation).
- Histology: Transmural inflammation leading to deeper tissue damage.
- Clinical presentation:
- Non-bloody diarrhea, RLQ pain.
- Perianal disease: Fistulas, abscesses, and skin tags.
- Complications:
- Strictures: Bowel narrowing due to fibrosis and inflammation, leading to obstruction.
- Fistulas: Abnormal connections between the bowel and adjacent organs.
- Malabsorption: Common in patients with small bowel involvement, leading to vitamin B12 deficiency and other nutritional deficits.
Diagnosis
- Endoscopy with biopsy:
- UC: Continuous inflammation starting from the rectum.
- CD: Skip lesions, non-caseating granulomas, and deep ulcers.
- Imaging:
- CT/MRI enterography: Preferred for small bowel evaluation and detection of complications such as strictures and fistulas in CD.
- Lab markers:
- Elevated CRP and ESR indicate active inflammation.
- Fecal calprotectin: Elevated in IBD, distinguishing it from irritable bowel syndrome (IBS).
Treatment
Acute Flares
- Corticosteroids: Used to induce remission during moderate to severe flares.
- Oral prednisone or IV steroids for severe flares.
- Budesonide for mild ileocolonic Crohn's disease.
- Biologic agents: Anti-TNF agents (e.g., infliximab) are often used in steroid-refractory disease.
Maintenance Therapy
- Aminosalicylates (5-ASA): First-line for mild to moderate UC, but limited role in CD.
- Immunomodulators: Azathioprine, 6-mercaptopurine (6-MP), or methotrexate for long-term disease control.
- Biologics: Anti-TNF agents (e.g., infliximab, adalimumab) and newer agents like vedolizumab (anti-integrin) or ustekinumab (IL-12/23 inhibitor) for moderate to severe disease.
Surgery
- Ulcerative Colitis: Total colectomy is curative and is indicated in cases of refractory disease, high-grade dysplasia, or cancer.
- Crohn’s Disease: Surgery is not curative and is reserved for complications (e.g., strictures, fistulas). Recurrence after surgery is common.
Monitoring and Surveillance
- Colon cancer screening: Patients with extensive colitis should undergo regular colonoscopy every 1–2 years starting 8 years after diagnosis.
- Bone density monitoring: Long-term corticosteroid use increases the risk of osteoporosis, warranting periodic screening.
Key Points
- Ulcerative Colitis involves continuous colonic inflammation starting from the rectum and presents with bloody diarrhea. Inflammation is limited to the mucosa.
- Crohn’s Disease affects any part of the GI tract with skip lesions and transmural inflammation, leading to complications such as strictures, fistulas, and malabsorption.
- Endoscopy with biopsy is critical for diagnosis, supported by imaging and lab markers (CRP, fecal calprotectin).
- Corticosteroids are used for flares, and immunosuppressants or biologic agents are used for maintenance.
- Regular colonoscopy is necessary for cancer surveillance in long-standing colonic disease.