Diagnostic Tests for Alpers Syndrome
Alpers Syndrome Tests: Book Excerpts
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Alpers Syndrome Diagnosis: Book Excerpts
Diagnostic Tests for Alpers Syndrome: Online Medical Books
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Hepatitis:
Physical examination
(The 10-Minute Diagnosis Manual: Symptoms and Signs in the Time-Limited Encounter)
A. General examination. Common findings in viral, alcoholic, or drug-induced hepatitis include fever, jaundice, scleral icterus, weight loss, muscle tenderness or weakness, and a palpable tender liver. Ecchymosis or petechiae indicates significant clotting factor abnormalities and, coupled with a small liver which diminishes in size, is suggestive of severe hepatitis or impending hepatic failure.
B. Chronic liver disease results in progressive liver dysfunction, fluid retention, and portal hypertension. The liver plays a key role in the detoxification of endogenous hormones, drugs, and ingested substances. Abnormalities in estrogen metabolism have often been considered the cause of peripheral stigmata such as spider angiomata, palmar erythema, gynecomastia, parotid enlargement, and testicular atrophy.
C. Does the abdominal examination reveal hepatosplenomegaly? Modest enlargement of the liver occurs in acute viral and chronic hepatitis, whereas marked enlargement (>10 cm below the costal margin) is seen in alcoholic hepatitis. Ascites, prominent abdominal collateral veins, bruits, rubs, abdominal masses, or a palpable gallbladder can also indicate hepatitis, whereas a small liver can indicate cirrhosis.
Testing
Laboratory tests differentiate between hepatocellular disorders (e.g., viral hepatitis) and cholestatic syndromes (e.g., primary biliary cirrhosis and bile duct obstruction).
A. Liver function tests (LFTs)
1. Elevated alanine aminotransferase (ALT) and aspartate aminotransferase (AST) are nonspecific indicators of hepatocellular damage and do not distinguish viral from drug-induced hepatitis. Alcoholic liver disease is suggested when the AST:ALT ratio is greater than 2:1.
2. Total serum bilirubin is not a sensitive indicator of hepatic dysfunction. Hepatitis impairs the excretion phase of bilirubin metabolism, resulting in an elevated direct (conjugated) bilirubin greater than 0.1 mg/dl.
3. γ-Glutamyl transpeptidase (GGT) is a very sensitive indicator for minimal hepatocellular damage. Elevations are seen in alcoholic liver disease before other LFTs are abnormal.
4. Alkaline phosphatase indicates cholestasis or obstruction. Approximately 75% of patients with prolonged cholestasis have alkaline phosphatase values increased fourfold or greater.
5. Immunoglobulins (IgA, IgG, IgM) in acute hepatitis are normal or minimally increased. A moderate increase is seen in chronic active or autoimmune hepatitis. Indices are useful in monitoring response to immunotherapy.
6. Circulating autoantibodies (e.g., antinuclear, smooth muscle, liver-kidney microsomal) may be seen in autoimmune hepatitis.
B. Hepatitis serology. Serologic testing (anti-HDV, anti-HCV) is now available for each type, except hepatitis E virus (HEV) (5) (Fig. 9.1). Hepatitis G virus (HGV) and GB virus C (GBV-C) are the most recently discovered hepatitis viruses (2). HGV is present in asymptomatic blood donors and, although it is thought to cause chronic hepatitis, no causal relationship between HGV and hepatitis has been convincingly established (3).
C. Radiologic and diagnostic procedures
1. Abdominal films are useful in detecting splenomegaly.
2. Ultrasound is helpful in detecting gallstones in patients with jaundice and in detecting mass lesions (tumors or liver abscesses).
3. Abdominal computerized tomography aids in the diagnosis of mass lesions of the liver and abnormalities of the gallbladder.
4. Percutaneous needle biopsy of the liver permits an accurate diagnosis of diffuse parenchymal disorders such as hepatitis, drug reaction, cirrhosis, and liver tumors.
Diagnostic assessment
Viral hepatitis can be diagnosed by a thorough history and serology used in tandem. Individual susceptibility to hepatic injury in drug-induced hepatitis can be affected by genetic factors, age, gender, nutritional status, exposure to other drugs and chemicals, systemic disease, and other factors (4). Liver injury produced by drugs is either cytotoxic (hepatocellular), cholestatic, or a combination of the two. Knowledge of these mechanisms is extremely important in diagnosing the inciting agent. Alcoholic hepatitis is identified by the history coupled with the typical laboratory abnormalities. Chronic hepatitis requires elevated LFTs for at least 6 months and can result from infection with HBV or HCV, alcoholic liver disease, drug toxicity, or autoimmune causes. Liver biopsy is required for accurate assessment and classification of chronic hepatitis. Although effective vaccines are available for HAV and HBV and have yielded protection for decades, vaccines for HCV and HEV are only in early development and no vaccine exists for HDV.
References
1. Schiff ER, Sorrell MF, Maddrey WC. Diseases of the liver, 8th ed. Philadelphia:
Lippincott Williams & Wilkins, 1999:234–235, 919–921.
2. Blum HE. Update hepatitis A-G. Digestion 1997;58(Suppl 1):33–36.
3. Zimmerman HJ. General aspects of drug-induced liver disease. Gastroenterol Clin North Am 1995;24:739–757.
4. Kools AM. Hepatitis A,B,C,D, and E. Update on testing and treatment. Postgrad Med 1992;91:109–114.
5. Schiff ER. Update in hepatology. Ann Intern Med 1999;130:52–59.
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Source: The 10-Minute Diagnosis Manual: Symptoms and Signs in the Time-Limited Encounter, 2000
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