Liver biopsy
Liver biopsy involves removal of a small piece of tissue from the liver to evaluate for damage or disease. This diagnostic test is usually suggested when blood tests reveal high levels of liver enzymes or excessive iron. An inflamed liver may also need to be examined with a liver biopsy. Cases of cirrhosis or hepatitis may require liver biopsy to diagnose the extent of liver damage. A patient scheduled for liver biopsy will need to keep the physician informed of various medications that are taken, such as anticoagulants, ibuprofen and aspirin. It is necessary to fast for about 8 hours prior to the liver biopsy procedure. The patient may be asked to stay in the hospital for a few hours to observe for any signs of bleeding or other complications as as peritonitis or puncture of the gallbladder.Liver biopsy is done in the following ways:
Percutaneous liver biopsy involves use of special needle to make an incision through the skin, taking care not to nick any other internal organs.
Laparoscopic liver biopsy involves use of laparoscope to make a small incision in the abdomen. This aids the physician in taking a biopsy from a specific part of the liver.
Transvenous liver biopsy involves insertion of a catheter into a vein in the neck and guiding it to the liver. The biopsy needle is fitted to the catheter.
Zieve's Syndrome
A syndrome that is characterized by acute metabolic condition that can occur during prolonged alcohol abuse. It was described initially in 1958 by Dr Leslie Zieve for patients with a combination of alcoholic liver disease Hemolytic Anemia and Hypertriglyceridemia. Zieve's syndrome exhibits liver and blood abnormalities caused by heavy alcohol consumption.
This is a condition associated with chronic alcoholism, frequently encountered in hospitalized alcoholics who have suddenly stopped alcohol. The underlying cause is liver delipidization and hemolytic anemia. This is distinct from alcoholic hepatitis which may be present simultaneously or develop later. The syndrome is defined by excessive blood lipoprotein, jaundice and abdominal pain.
Symptoms
Most common symptoms due to long-term history of chronic alcoholism include:
Nausea
Vomiting after heavy drinking
Anorexia
Abdominal pain
Hepatomegaly, enlarged spleen, late cirrhosis
Skin and yellow sclera
Hemolytic Anemia, Hemoglobinuria (hemoglobin is excreted in urine) and Hemosiderin (insoluble form of storage iron complex) in urine.
Hepatic dysfunction, Jaundice, Hyperlipidemia and reversible hemolytic anemia after alcohol abuse are prominent symptoms.
Causes of Zieve's Syndrome
Zieve's syndrome is caused by alcoholism due to liver cell damage and various degrees of cholestasis thus causing cancer. Fatty liver production of free fatty acids into blood stream, increased triglycerides that causes hyperlipidemia and increased cholesterol and phospholipid deposition, and damaged red blood cells which become hard and brittle and blocked by splenic sinusoids. In addition, alcoholism induced pancreatitis and vitamin E deficiency is associated with hemolysis.
Diagnosis of Zieve's Syndrome
The diagnosis is based from objective information about alcoholism, and blood test for the abnormalities. It is based on history and the triple disease – jaundice, hemolytic anemia and hyperlipidaemia. For jaundice, moderate and direct bilirubin test is done. Hemolytic anemia is visible in hemoglobinuria and hemosiderin urine. There could be drop in hemoglobin, reticulocytes, bone marrow erythroblastic hyperplasia, and increased erythrocyte fragility and shortened life of red blood cells.
Hyperlipidemia is detected by increase in cholesterol, triglycerides and phospholipids. Diagnostic tests include hemoglobin, bone marrow examination, blood lipids including cholesterol, phospholipids, triglycerides, serum bilirubin, alkaline phosphatase, and liver function test and liver biopsy. Ultrasonography is done to reveal the syndrome. There could be rapid serum level rise after alcohol withdrawal in patients with denial of drinking.
Treatment
Temperance for two to three weeks is essential for symptoms to disappear. A diet high in sugar-protein, vitamins and hepatoprotective drug is necessary. In addition to jaundice, treatment for high blood cholesterol and hemolytic anemia are essential. Basic therapy includes bed rest, adequate food intake, hydration and vitamin supplementation. The patient usually recovers from the symptoms very quickly, but the disease can recur if alcohol abuse persists.
Hemochromatosis
Haemochromatosis is characterized by excess iron in the body. Just like lack of iron can cause anemia, excessive levels of iron in the blood are toxic. The effects are damaging since the iron mineral starts building up in the tissue. In many cases, Hemochromatosis is caused due to an inherited abnormality that causes the body to increase absorption of iron from the intestine. This condition is called primary Hemochromatosis. Secondary Hemochromatosis occurs when abnormal red blood cells in the body are destroyed and iron is released.
Causes : Hereditary Hemochromatosis is an autosomal recessive condition. This Hemochromatosis which is known as iron overload, bronze diabetes, hereditary Hemochromatosis and familial Hemochromatosis. Hemochromatosis afflicts nearly 1.5 million people in the United States and it is one of the most common genetic disorders in the US. Approximately one in 9 persons have one abnormal Hemochromatosis gene which works out to 11% of the US population. Since all of us have 2 copies of each gene, these individuals have an abnormal HFE gene and a normal gene. Thus they are called as carriers. Between 1/200 and 1/400 individuals have two abnormal genes for Hemochromatosis and no normal gene. The culprit gene is on chromosome 6, known as HFE.
As it is an autosomal recessive condition, siblings of the Hemochromatosis patients are at 25% risk to be affected as well. But the chances of the person to develop symptoms depends on which gene mutation s/he has in addition to environmental factors. The 2 most common changes in the HFE gene are C282Y and H63D. To complicate things further, the age at which symptoms show up vary widely even within the same family.
Idiopathic Pulmonary Hemosiderosis (IPH), a disorder affecting largely children and young adults, is a similar disorder owing to abnormal accumulation of hemosiderin. Hemosiderin is a protein found in most tissues, but primarily in the liver. It is produced by digestion of hematin, an iron related substance.
Although it affects both sexes in equal proportion, women suffer later in their lives because of the blood loss in menstruation and child birth in their younger ages. This iron dose overload usually affects people in the age group of 30 - 60 years. It is essential to treat this condition lest it lead to heart failure or cirrhosis of the liver. 5% of cirrhosis cases are caused by hereditary Hemochromatosis.
In Hemochromatosis, as the excess iron is deposited in the liver, pancreas, heart, endocrine glands, skin, joints and intestinal lining, it may result in toxicity of the affected organs. Persons suffering from Hemochromatosis tend to feel fatigue and lethargy. There might be joint pain or arthritis. Men might notice impotence and reduced sex drive. Other symptoms of Hemochromatosis are loss of body hair and darkening of skin. Cirrhosis of the liver might occur due to scarring of liver. This is accompanied by abdominal pain, jaundice and enlargement of the liver and spleen. Haemochromatosis can lead to heart failure or abnormal heart rhythms. The patient may show symptoms similar to heart failure, diabetes or cirrhosis of the liver. Changes in the pigment of the skin may occur, like grayness or a tanned/yellow appearance. Idiopathic pulmonary hemosiderosis appears as paleness of the skin. At times, the patient may start spitting of blood from the lungs or bronchial tubes.
Diagnosis: Hemochromatosis is diagnosed through blood tests and liver biopsy. The usual diagnostic methods are genetic blood studies, blood studies of iron, Magnetic Resonance Imaging (MRI), and liver biopsy. Blood studies of transferrin iron saturation and ferritin (a protein that transports iron and liver enzymes) concentration are used to screen for iron overload. Genetic testing is a reliable technique of diagnosis of Hemochromatosis as this method became widely available. Diagnosis of idiopathic pulmonary hemosiderosis begins with blood tests and X-ray studies of the chest area.
Hemochromatosis Treatment: The first option of treatment is therapeutic venesection or phlebotomy ( a process of regular bloodletting, similar to blood donation). Patients may need to undergo these procedures one or two times a week for a year. The frequency of phlebotomy may be reduced subsequently based on the condition of iron build up. For cases of patients who cannot tolerate phlebotomy owing to other medical conditions can be treated with Desferal (Desferrioxamine). Patients suffering from Haemochromatosis must limit the consumption of iron. Some times chelating agents may be prescribed to control the absorption of iron. Excess alcohol consumption must be avoided. Avoid iron supplements and Vitamin C, which aids absorption of iron. Reduction in the intake of supplements containing iron and foods such as uncooked sea food may help manage this condition.
Prevention: Genetic testing might be the most helpful as variable severity has been noted in patients who have 2 C282Y genes compared to patients with 2 H63D genes or one of each. The best screening method may be iron and ferritin studies which are cost effective for the susceptible group of people. At the end of the day, Hemochromatisis is a common, easily and effectively treated condition. The complications arise in diagnosis as the symptoms mimic other medical conditions.
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Bibliography / Reference
Collection of Pages - Last revised Date: October 14, 2024