LIVER DISEASE

In hemochromatosis, the commonest mutation is C282Y. It is found in approximately 90% of cases.
The mutation is on chromosome 6, affecting the HFE gene.
There is an increased incidence in males.
The serum Fe is elevated (> 300 mg/dL).
The serum transferrin saturation is a sensitive parameter of increased Fe and merits evaluation when > 50%.
The serum ferritin is increased ferritin of >1000 μmol/l is suggestive (normal <200).> 2 mg/24 h) by the chelating drug deferoxamine (500 to 1000 mg IM based on the size of the patient), and this has been used as a diagnostic test.
In addition, when the Fe content in the liver is significantly increased, an MRI may reflect this change. Liver biopsy had been the gold standard in diagnosis; it now serves only to provide evidence of fibrosis (cirrhosis). Gene assay (Homozygosity C282y mutations) is the also an excellent diagnostic test.


Venesection is preferred therapy . Treatment consists of bi-weekly venesection removing approximately 500 ml per week. Desferrioxamine infusion (another iron chelator) can also be used.

Iron infiltrates the parathyroid glands and can cause hypoparathyroidism. In haemochromatosis , joint deposition of iron occurs, causing arthropathy. Increased iron deposition in the skin stimulates increased melanin production. Haemochromatosis is a recognised cause of restrictive cardiomyopathy. Cardiac damage is commonly seen with ferritin >2,000 ng/l

Wilson disease : The abnormal gene is the ATP7B gene on chromosome 13. It is autosomal recessive. Kayser-Fleischer rings are often seen on slit lamp, but not always. The best test is hepatic copper concentration (> 250 μg /g of dry weight). . Typically there is low serum copper levels but high urine excretion of copper. There is low liver production of caeruloplasmin (< style="font-weight: bold;">Non-alcoholic steatohepatitis (NASH) is a form of liver disease resembling alcoholic liver disease in a patient who does not consume significant amounts of alcohol. The natural course is relatively benign, but liver cirrhosis. together with all its sequelae, may develop; sometimes liver transplantation is indicated. NASH is associated increased prevalence of Insulin resistance/type 2 diabetes. There may also be lipid abnormalities and increased iron stores.

Abdominal tenderness is found in more than 50% of patients with Spontaneous Bacterial Peritonitis. Findings on the abdominal examination can range from mild tenderness to overt rebound and guarding. Traditionally, three fourths of SBP infections are caused by aerobic gram-negative organisms (50% of these being Escherichia coli), and one fourth of these infections are due to aerobic gram-positive organisms ( streptococcal species).
An ascitic fluid neutrophil count of > 250 cells/mL and ascites lactate level of >25 mg/dL are the single best predictors of SBP. A combination of an aminoglycoside and ampicillin or cefotaxime can be used.

Budd-Chiari syndrome is thrombosis of the hepatic vein, the major vein that leavesthe liver. Most patients have an underlying thrombotic tendency. About 10% have polycythemia vera, and about 10% have been on the OCP. The most common symptoms in Budd-Chiari syndrome are hepatomegaly, abdominal pain, ascites and jaundice.

Child's Pugh classification includes bilirubin, prothrombin tine, encephalopathy scores, ascites and albumin to measure the severity of liver disease.

Somatostatin its derivative, octreotide, and terlipressin are often used for emergency treatment of bleeding oesophageal varices in patients with cirrhosis of the liver.

Beta blockers (nadolol), nitrates, vasopressin analogues and somatostatin analogues can also be used for reducing rebleeding in oesophageal varices

Wernicke encephalopathy is a neurologic disorder of acute onset caused by a thiamine deficiency. The condition is characterized by ocular abnormalities, ataxia, and a global confusional state. Wernicke encephalopathy results from a deficiency in vitamin B-1 (ie, thiamine). The episode may have been precipitated by intravenous dextrose administration which exhausted his vitamin B reserves. B vitamins should be administered to all alcoholic patients requiring dextrose.

The main features of Korsakoff’s psychosis is short term memory loss and subsequent compensatory confabulation by patient. Other symptoms may include delirium, anxiety, depression, confusion, delusions and insomnia. The treatment is with intravenous thiamine.

Hepatorenal syndrome (HRS) is the development of renal dysfunction in patients with severe liver disease (acute or chronic) in the absence of any other identifiable causes of renal Pathology

Category: Gastroenterology Notes