Hepatocellular carcinoma or hepatoma affects people with pre-existing cirrhosis and is more common in areas with higher prevalence of hepatitis B and C. Diagnosis include raise alpha-fetoprotein levels, imaging and liver biopsy if needed. Patients at high-risk for developing this disease can undergo screening by periodic AFP measurement and abdominal ultrasonography. The malignancy carries poor prognosis (see also Answer to 10.4).

Sclerosing cholangitis along with the passage of blood in stools suggests ulcerative colitis affecting the mucosa and submucosa of rectum and colon, with a sharp demarcation with the normal tissue. The musclaris layer is involved in severe cases. Initially, the mucosa is erythematous, friable with scattered haemorrhagic areas and loss of normal vascular pattern. Severe disease is indicated by presence of large mucosal ulcers with purulent exudate. There can be islands of normal mucosa between the ulcerated mucosa, along with few hyperplastic inflammatory mucosal lesions (pseudopolyps). Ulcerative colitis does not lead to development of fistulas or abscesses.

Hepatitis A is the most common acute viral hepatitis, more common in children and young adults. It is caused by Hepatitis A virus, which is a single-stranded RNA picornavirus. The primary route of spread of Hepatitis A is the faecal-oral route. Consumption of contaminated raw shellfish is also a likely causative factor. The shedding of the virus in faecal matter occurs before the onset of symptoms and continues a few days after. Hepatitis A does not lead to chronic hepatitis or cirrhosis, and there is no known chronic carrier state. Hence, a biopsy performed after recovery will show normal hepatocellular architecture.

Crohn’s disease is a chronic, inflammatory disease that can affect any part of the gastrointestinal tract but is usually seen in the distal ileum and colon. It is transmural and symptoms include chronic diarrhoea, abdominal pain, fever, anorexia and weight loss. On examination, there is usually abdominal tenderness with a palpable mass or fullness seen occasionally. Rectal bleeding is uncommon (except in isolated colonic involvement) which manifests like ulcerative colitis. Differential diagnosis includes acute appendicitis or intestinal obstruction. 25%-33% patients also have perianal disease in the form of fissure or fistulas.

Extra intestinal manifestations predominate in children, and include: arthritis, pyrexia, anaemia or growth retardation. Histologically, the disease shows crypt inflammation and abscesses initially, which progress to aphthoid ulcers. These eventually develop into longitudinal and transverse ulcers with interspersed mucosal oedema, leading to the characteristic ‘cobblestoned appearance’. Transmural involvement leads to lymphoedema and thickening of bowel wall and mesentery, leading to extension of mesenteric fat on the serosal surface of bowel and enlargement of mesenteric nodes. There can also be hypertrophy of the muscularis mucosae, fibrosis and stricture formation, which can cause bowel obstruction.

Abscesses are common and the disease can also leas to development of fistulas with various other organs, anterior abdominal wall and adjacent muscles. Pathognomonic non-caseating granulomas are seen in 50% cases and they can occur in nodes, peritoneum, liver, and in all layers of the bowel wall. The clinical course does not depend on the presence of granulomas. There is sharp demarcation between the diseased and the normal bowel (skip areas).

35% cases show only the ileal involvement, whereas in 45% cases, both the ileum and colon are involved with a predilection for right side of colon. 20% cases show only colonic involvement, often sparing the rectum (unlike ulcerative colitis). In occasional cases, there is jejunoileitis – involvement of the entire small bowel. The stomach, duodenum and oesophagus are rarely involved, although there has been microscopic evidence of disease involving the gastric antrum in younger patients. The affected small bowel segments show increased rick of cancer. Moreover, patients with colonic disease show a long-term risk of cancer similar to that seen in ulcerative colitis.

Scleroderma is a connective tissue disorder that ranges in severity and progression. The disease could show generalised skin thickening with rapid, fatal, visceral involvement; or only cutaneous involvement (typically fingers and face). The slow progressive form is also known as ‘limited cutaneous scleroderma’ or CREST syndrome (calcinosis cutis, Raynaud’s phenomenon, (o)oesophageal dysmotility, sclerodactyly, and telangiectasia).

Aflatoxins are naturally occurring toxins produced by the Aspergillus fungus (most often, A. flavus and A. parasiticus). These organisms are common and their native habitat is soil, decaying vegetation and grains. They can contaminate the grain before harvest or after storage, more likely in high-humidity (at least 7%) or high temperature environment of after stressful conditions like drought. Aflatoxins are mycotoxins and also carcinogenic. They get metabolized in the liver to an epoxide, aflatoxin M1. High exposure can lead to acute necrosis, cirrhosis or liver carcinoma. These substances can cause haemorrhage, acute liver damage, oedema, and alteration in digestion, absorption and/or metabolism of nutrients. Although humans are susceptible to these toxins like all other animals, they have a high tolerance level and hence, rarely develop acute aflatoxicosis. However, children are particularly susceptible to exposure leading to growth impairment and delayed development. Chronic exposure carries a high risk of hepatic cancer, due to intercalation of its metabolite aflatoxin M1 into the DNA and alkylation of the bases because of its epoxide moiety.

Non-neoplastic (non-adenomatous) colonic polyps include hyperplastic polyps, hamartomas, juvenile polyps, pseudopolyps, lipomas, leiomyomas and others.

An autosomal dominant condition, Peutz–Jeghers syndrome is a disease that is characterized by multiple hamartomatous polyps in the stomach, small bowel and colon. Symptoms of this syndrome include hyperpigmentation of the skin and mucous membranes, especially of the lips and gums.

Juvenile polyps develop in children, and once they outgrow their blood supply, they autoamputate around puberty. In cases of uncontrolled bleeding or intussusception, treatment is needed.

Inflammatory polyps and pseudopolyps occur in chronic ulcerative colitis and Crohn’s disease. There is an increased risk of cancer with multiple juvenile polyps (not with sporadic polyps).

The described features suggest acute bowel obstruction. The scar described points toward previous surgery, which suggests development of peritoneal adhesions that could lead to obstruction. Hepatitis does not lead to dilated bowel loops. Amoebiasis could lead to inflammatory bowel disease, however, occult blood in stool is usually positive. Ileal adenocarcinoma is rare. Meckel’s diverticulum can possibly lea to obstruction but the findings described here are more consistent with obstruction due to peritoneal adhesions from a past surgery.

Alpha-fetoprotein (AFP) is a glycoprotein that is normally produced by the yolk sac of the embryo, and then the fetal liver. It is elevated in the new-born and thus, also in the pregnant women. Eventually, it decreases in the first year of life to reach the adult normal value of < 20 ng/ml by 1 year of age. Markedly elevated levels (>500 ng/ml) in a high-risk patient is considered diagnostic for primary hepatocellular carcinoma (HCC). Moreover, due to smaller tumours secreting less quantities of AFP, rising levels can be a better indication. However, not all hepatocellular carcinomas produce AFP. Also, the level of AFP is not a prognostic factor. Populations where hepatitis B and HCC are common (e.g.: sub-Saharan Africans, ethnic Chinese) can see AFP levels as high as 100,000 ng/ml, whereas levels are low (about 3000 ng/ml) in regions with lesser incidences of HCC.

AFP can also be elevated up to 500 ng/ml in conditions like embryonic teratocarcinomas, hepatoblastomas, fulminant hepatitis, hepatic metastases from gastrointestinal tract cancers, some cholangiocarcinomas). Lesser values are seen in acute and chronic hepatitis.

Overall, the sensitivity of AFP value ≥20 ng/ml is 39-64% and the specificity is 76%–91%. Value of 500 ng/ml is considered as the diagnostic cut-off level for HCC.

An autoimmune disease, primary biliary cirrhosis results in destruction of intrahepatic bile ducts. This leads to cholestasis, cirrhosis and eventually, hepatic failure. Symptoms includes fatigue, pruritus and steatorrhea. Increased IgM levels, along with antimitochondrial antibodies are seen in the serum. Liver biopsy is diagnostic, and also aids in staging of disease.