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IBD is a familial disease in 510% of patients. Some of these patients may exhibit early onset
disease during the first decade of life and, in CD, a concordance of anatomic site and clinical
type within families. In the remainder of patients, IBD is observed in the absence of a family
history (i.e., sporadic disease). If a patient has IBD, the lifetime risk that a first-degree relative
will be affected is ~10%. If two parents have IBD, each child has a 36% chance of being
affected. In twin studies, 58% of monozygotic twins are concordant for CD and 6% are
concordant for UC, whereas 4% of dizygotic twins are concordant for CD and none are
concordant for UC. In a recent twin study from Germany, the relative risk of a monozygotic twin
developing Crohn's disease if his or her twin was affected was 738. The risks of developing IBD
are higher in first-degree relatives of Jewish versus non-Jewish patients: 7.8% versus 5.2% for
CD and 4.5% versus 1.6% for UC.
Additional evidence for genetic predisposition to IBD comes from its association with certain
genetic syndromes.
dampening of the immune response and tissue repair. In IBD this process may not be regulated
normally.
Pathology
Ulcerative Colitis: Macroscopic Features
UC is a mucosal disease that usually involves the rectum and extends proximally to involve all or
part of the colon. About 4050% of patients have disease limited to the rectum and rectosigmoid,
3040% have disease extending beyond the sigmoid but not involving the whole colon, and 20%
have a total colitis. Proximal spread occurs in continuity without areas of uninvolved mucosa.
When the whole colon is involved, the inflammation extends 23 cm into the terminal ileum in
1020% of patients. The endoscopic changes of backwash ileitis are superficial and mild and are
of little clinical significance. Although variations in macroscopic activity may suggest skip areas,
biopsies from normal-appearing mucosa are usually abnormal. Thus, it is important to obtain
multiple biopsies from apparently uninvolved mucosa, whether proximal or distal, during
endoscopy. One caveat is that effective medical therapy can change the appearance of the
mucosa such that either skip areas or the entire colon can be microscopically normal.
With mild inflammation, the mucosa is erythematous and has a fine granular surface that
resembles sandpaper. In more severe disease, the mucosa is hemorrhagic, edematous, and
ulcerated (Fig. 295-1) In long-standing disease, inflammatory polyps (pseudopolyps) may be
present as a result of epithelial regeneration. The mucosa may appear normal in remission, but in
patients with many years of disease it appears atrophic and featureless, and the entire colon
becomes narrowed and shortened. Patients with fulminant disease can develop a toxic colitis or
megacolon where the bowel wall thins and the mucosa is severely ulcerated; this may lead to
perforation.
Ulcerative colitis. Diffuse (nonsegmental) mucosal disease, with broad areas of ulceration.
The bowel wall is not thickened, and there is no cobblestoning.
present. The neutrophils invade the epithelium, usually in the crypts, giving rise to cryptitis and,
ultimately, to crypt abscesses (Fig. 295-2). Ileal changes in patients with backwash ileitis include
villous atrophy and crypt regeneration with increased inflammation, increased neutrophil and
mononuclear inflammation in the lamina propria, and patchy cryptitis and crypt abscesses.
present in one-third of patients with CD, particularly those with colonic involvement. Rarely, CD
may also involve the liver and the pancreas.
Unlike UC, CD is a transmural process. Endoscopically, aphthous or small superficial ulcerations
characterize mild disease; in more active disease, stellate ulcerations fuse longitudinally and
transversely to demarcate islands of mucosa that frequently are histologically normal. This
"cobblestone" appearance is characteristic of CD, both endoscopically and by barium
radiography. As in UC, pseudopolyps can form in CD.
Active CD is characterized by focal inflammation and formation of fistula tracts, which resolve
by fibrosis and stricturing of the bowel. The bowel wall thickens and becomes narrowed and
fibrotic, leading to chronic, recurrent bowel obstructions. Projections of thickened mesentery
encase the bowel ("creeping fat"), and serosal and mesenteric inflammation promotes adhesions
and fistula formation.
Clinical Presentation
Ulcerative Colitis
Signs and Symptoms
The major symptoms of UC are diarrhea, rectal bleeding, tenesmus, passage of mucus, and
crampy abdominal pain. The severity of symptoms correlates with the extent of disease.
Although UC can present acutely, symptoms usually have been present for weeks to months.
Occasionally, diarrhea and bleeding are so intermittent and mild that the patient does not seek
medical attention.
Patients with proctitis usually pass fresh blood or blood-stained mucus, either mixed with stool
or streaked onto the surface of a normal or hard stool. They also have tenesmus, or urgency with
a feeling of incomplete evacuation, but rarely have abdominal pain. With proctitis or
proctosigmoiditis, proximal transit slows, which may account for the constipation commonly
seen in patients with distal disease.
When the disease extends beyond the rectum, blood is usually mixed with stool or grossly
bloody diarrhea may be noted. Colonic motility is altered by inflammation with rapid transit
through the inflamed intestine. When the disease is severe, patients pass a liquid stool containing
blood, pus, and fecal matter. Diarrhea is often nocturnal and/or postprandial. Although severe
pain is not a prominent symptom, some patients with active disease may experience vague lower
abdominal discomfort or mild central abdominal cramping. Severe cramping and abdominal pain
can occur with severe attacks of the disease. Other symptoms in moderate to severe disease
include anorexia, nausea, vomiting, fever, and weight loss.
Physical signs of proctitis include a tender anal canal and blood on rectal examination. With
more extensive disease, patients have tenderness to palpation directly over the colon. Patients
with a toxic colitis have severe pain and bleeding, and those with megacolon have hepatic
tympany. Both may have signs of peritonitis if a perforation has occurred. The classification of
disease activity is shown in Table 295-4.