Alpha-1 Antitrypsin Deficiency

Alpha-1 antitrypsin is one of many proteins that the liver produces from food and circulates into the bloodstream. People with alpha-1 antitrypsin deficiency make a slightly abnormal form of this protein, which becomes trapped in the liver.

Inability to make proper alpha-1 antitrypsin is inherited from both parents.

Symptoms of alpha-1 antitrypsin deficiency

Some people have no visible symptoms. Some are healthy for many years, but later in life develop emphysema and lung damage. Yet other children develop inflammation of the liver and display signs of liver damage within the first four months of life. In such cases, symptoms may include:

  • Jaundice
  • Persistently yellow urine
  • Poor weight gain
  • Abnormal bleeding from the nose or umbilicus
  • Enlargement of the liver and or spleen

Older children with alpha-1 antitrypsin deficiency may experience symptoms including:

  • Jaundice
  • Ascites  (accumulation of fluid in the abdomen)
  • Portal hypertension (increased blood vessel pressure in the portal vein)

Treatments for alpha-1 antitrypsin deficiency

Although there is no cure for this condition, treatments can help to reduce symptoms associated with alpha-1 antitrypsin deficiency. Treatments include regular monitoring in order to recognize and treat changes in the liver promptly, as well as dietary recommendations, which may include extra calories, vitamins or other.