Your Complete Guide to Liver Health by Paul J. Thuluvath

Author:Paul J. Thuluvath
Language: eng
Format: epub
Publisher: Johns Hopkins University Press
Published: 2022-10-15T00:00:00+00:00

Prognosis

A liver transplant can cure people with acute liver failure or those with complications from cirrhosis.

ALPHA-1 ANTITRYPSIN DEFICIENCY

Alpha-1 antitrypsin deficiency is very rare disorder that may cause liver or lung damage (often both), due to an inadequate amount of the alpha-1 antitrypsin (AAT) enzyme. This deficiency is caused by the mutation of a gene called SERPINA 1. To get the disease, a person has to inherit two copies of the mutated gene, one from each parent. The normal genotype is referred to as MM, and the abnormal one as ZZ.

AAT protects lung cells (alveoli) from damage caused by an enzyme (elastase) released by white blood cells in response to an infection. A low level of this enzyme causes emphysema. In liver cells, the accumulation of a variant of AAT causes liver damage, resulting in cirrhosis and liver cancer. Rarely, a person’s skin may also be involved.

Alpha-1 antitrypsin deficiency is suspected if an individual has a family history of emphysema without any known risk factors, or in the presence of both emphysema and liver disease. AAT is often diagnosed during an investigation of abnormal liver enzymes or emphysema. In the affected person, chest X-rays may indicate emphysema, and blood tests may show low alpha-1 antitrypsin levels. ATT is confirmed by genotyping or a liver biopsy (if there is evidence of liver disease).

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