ALPHA 1 ANTITRYPSIN DEFICENCY

Thursday, November 12, 2009

• If patient has chronic hepatic injury and no other apparent cause is found testing for alpha 1 antitrypsin (A1AT) deficiency may be of benefit. Alpha-1-antitrypsin (AAT) deficiency is a clinically underrecognized disorder affecting the lung, liver, and rarely skin [214].
• If a neonate has evidence of hepatic injury testing is specially important
• If patient has AAT deficiency, other clinical presentations among newborns included hepatomegaly with elevated aminotransferase levels (but without hyperbilirubinemia), ascites, and bleeding (often umbilical, superficial, or intracranial [five percent of affected newborns]).
• If patient has AAT deficiency, liver disorders, such as neonatal hepatitis, cirrhosis both in children and adults, and hepatocellular carcinoma are associated with some AAT-deficient phenotypes
• If patient has AAT deficiency, beyond childhood, individuals with at-risk alleles may develop adult-onset cirrhosis or hepatocellular carcinoma, the former often occurring without antecedent childhood liver disease. The risk for hepatocellular carcinoma is greater in men (odds ratio 12 compared to controls) than women (odds ratio 8), and hepatocellular carcinoma can occur in the absence of accompanying cirrhosis.
• If patient has AAT deficiency, CLD and cirrhosis in AAT deficiency may occur at any age; the peak incidence occurs in the elderly never-smoker. Signs and symptoms do not differ from other causes of liver disease except in homozygotes, who may develop clinically overt lung disease at the same time or before manifestation of chronic liver disease.
• If patient has AAT Deficiency, male gender and obesity also may be risk factors for progression to advanced liver disease in adulthood among patients with severe AAT deficiency. In contrast, alcohol use and viral hepatitis do not appear to increase the risk of progressive hepatic failue
• If patient is suspected to have A1AT deficiency testing for variants should be performed by determination of phenotype
• If neonate is suspected to have A1AT deficiency, there may be elevated aminotransferase levels (but without hyperbilirubinemia)
• If patient has AAT deficiency, determination of the level of total AAT protein present in a patient's serum should not be used as the sole basis for establishing the diagnosis.
• Abdominal ultrasound examination should be done.
• If patient has AAT deficiency, liver biopsy is not necessary to establish the diagnosis, as phenotyping is accepted as the gold standard in diagnosis of AAT deficiency.
• If patient has AAT deficiency, considering the high incidence of CLD in the elderly, we recommend regular checks of this group with simple liver function tests. Checks should be undertaken in both asymptomatic AAT-deficient individuals and in those with extrahepatic disease (lung, etc.) alone
• If patient has AAT deficiency with lung manifestations only, in this group, vaccinations against viral hepatitis are not indicated. In contrast, vaccination is recommended in children and adults with AAT deficiency and overt CLD.
• If patient has AAT deficiency, although there is no evidence that alcohol consumption accelerates the progression of liver disease in patients with AAT deficiency, alcohol consumption should be kept below 60 g/day. In patients with overt CLD, cessation of alcohol intake is necessary.

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