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  • Reviewed on 6/12
    By Dr. Sandhaus

Alpha-1 Antitrypsin Deficiency: Inherited Liver Disease


Diagnosis and Treatment

A diagnosis of Alpha-1 is confirmed when the serum (liquid part of blood) level of the alpha-1 antitrypsin protein is low, and standard liver function tests are abnormal. Other tests such as urine analysis, ultrasound exams, or specialized X-ray tests may also be necessary. A biopsy of the liver is also usually performed to check for liver damage.

Treatment is designed to minimize symptoms and prevent organ damage. This is accomplished by maintaining appropriate nutrition and ensuring that the body is getting all essential nutrients. 

  • Often, supplemental vitamins E, D, and K are prescribed. 
  • Phenobarbital or cholestyramine may be prescribed for severe jaundice or itching.
  •  Diuretics may be prescribed if the disease progresses and excess body fluid develops.
  •  If increased blood pressure occurs in the vessels feeding the liver (portal hypertension), surgical interventions may be needed to prevent bleeding from the veins in the stomach or esophagus. 
  • Liver transplantation is an option of last resort in the case of liver failure, or when normal functioning at school, work, or home becomes impossible. A successful liver transplant can "cure" Alpha-1 as well as the liver problems it caused. 

 

Prognosis

The long-term outcome of Alpha-1 related liver disease is variable. Roughly 25 percent of affected patients will develop cirrhosis of the liver at some point in their lives.

 

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Alpha-1 Antitrypsin Deficiency Program

Doctors at National Jewish Health follow one of the largest groups of Alpha-1 patients in the country.

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