Abnormal liver enzyme
Abnormal liver enzyme detection and estimation provides a comprehensive foundation for the identification of inflammatory diseases associated with the liver. These values are raised when liver cells are damaged. Routine liver function test helps in the estimation and detection of abnormal liver enzymes.
In many cases liver enzyme abnormalities are caused because of hepatocellular injury. This condition results when the liver cells are damaged producing leaky membranes. The intracellular enzymes enter the blood stream as a result of these leaky membranes. The predominant intracellular liver enzymes which are analyzed indicating the hepatocellular damage are aspartate aminotransferase (AST) and alanine aminotransferase (ALT). Hepatitis is one of major causes for the hepatocellular damage.
Cholestasis is another condition, resulting in the production of abnormal liver enzymes. It is caused because of biliary obstruction or hepatic infiltration. The resulting enzymes produced because of these conditions include alkaline phosphatase (ALT) and gamma glutamyl transpeptidase (GGT).
Risk factors due to abnormal liver enzymes
The risk factors pertaining to the onset of liver disease are based upon factors such as behavior, medications and systemic illness. The patients categorized based on the behavior include IV drug users, history of multiple sex partners, alcohol abuse and tattoos. The patients categorized based on the medication include acetaminophen and anticonvulsant drug users. Systemic conditions such as diabetes, auto immune diseases, obesity and metastatic cancers are major risk factor indicatives of hepatocellular damage which elevate the abnormal liver enzyme values.
Liver function test
Alanine aminotransferase (ALT): It is also known as serum glutamic pyruvic transaminase (SGPT) analysis. It helps in the detection of hepatocellular damage due underlying conditions such as hepatitis. The reference range for the ALT test is 9 -72 u/l.
Alkaline phosphatase (ALP): This test used in the detection of biliary obstruction in liver and also bone disorders. The results are correlated with other liver function tests to diagnose liver cell damage. The reference range is 38-126 u/l
Aspartate aminotransferase (AST): AST is also used in the detection of liver cell damage and membrane leakage of the liver cells. The reference range is 8- 50 u/l.
Bilirubin: Bilirubin diagnostic test is administered to detect conditions such as cirrhosis, hepatitis and presence of gall stones. It is predominantly ordered in the case of newborns to detect the incidence of jaundice. The reference range for total bilirubin is 0.2-1.3 mg/dl.
Albumin: Albumin test signifies the presence of liver disorder or nephrotic syndrome. Low albumin levels indicate the presence of liver damage. The reference range is 3.9- 5.0 g/dl.
Lactate dehydrogenase (LDH): LDH values indicate the presence of tissue damage. It is used to detect tissue damage associated liver, kidney and cardiac origins. The reference range for LDH is 313-618 u/l.
Comprehensive metabolic panel (CMP): Comprehensive metabolic panel pertaining to liver disease is very significant in the detection of underlying liver disorders such as hepatitis especially in newborns. It also helps in the identification of liver damage caused because of alcohol consumption.
Gamma glutamyl transferase (GGT): This test acts as a precursor for the estimation of alkaline phosphatase values pertaining to hepatocellular damage and biliary obstruction. GGT and ALP tests are interrelated in case of hepatic and bone disorders.
Total protein: Total protein levels are measured by evaluating the albumin and globulin ratios. The reference range for total protein is 6.3- 8.2 g/dl. The decrease in total protein value indicates the onset of liver or kidney disease.
Colposcopy is a diagnostic tool that is often followed after an abnormal Pap smear test. A Colposcope is much like a large electric microscope that allows the physician to visualize the cervix, vaginal and genital area.
Basically a Colposcope is a complex optical instrument using light and magnification to distinguish dysplasia and cervical cancer from benign cervical findings. The word Colposcope is derived from 'colpo' indicating a vagina and 'scope' which refers to 'look'.
The physician applies vinegar solution to look for Leukoplakia and abnormal vessels. Colposcopy aids in viewing the cervix for any abnormal vascular changes. A colposcopy is suggested when there is any abnormality observed in the cervix or there is evidence of HPV. With a camera attached, images can be saved for records. During this procedure, any tissue sample or cervical biopsy can be taken for further investigation. This may cause slight discomfort and cramping. This diagnostic tool can be helpful in detecting any inflammation, cancerous growth or infection.
Preparation before colposcopy: Some conditions may require some medications before a session of colposcopy. Atrophic vaginal or cervical epithelium can be treated with intravaginal estrogen for 2-4 weeks before colposcopy in order to 'normalize' the epithelium.
Primary indications for colposcopy include abnormal Pap results or an abnormal appearing cervix. Early detection of cervical cancer is possible with colposcopy. Colposcopy is done in cases where a woman has unexplained bleeding during intercourse or there is any abnormal tissue on the cervix, vagina or vulva.
The Papanicolaou smear (Pap smear or Pap test) is a common test for dysplasia and cancer of the uterine cervix. In the US alone more than 50 million Pap Smear tests are taken every year. The Pap test is a cytologic examination of cells from the cervical transformation zone. A Pap test is often used to differentiate malignant cysts from common and mostly benign cysts. For example, Nabothian cysts are common and considered as a normal feature of the adult cervix.
A pelvic examination can sometimes help detect cysts and polyps. Endocervical polyps are the most common benign neoplasms of the uterine cervix. They are usually asymptomatic (but sometimes may cause vaginal discharge or post coital spotting) and occur in the 40 - 60 years. Most polyps are benign and the incidence of malignancy is approximately 1 in 1000.
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: September 22, 2021