Alpha-1 antitrypsin deficiency

Overview – Alpha-1 antitrypsin deficiency is an inherited disorder affecting the lungs, liver, and rarely, skin. Alpha-1 antitrypsin is a protein that is produced mostly in the liver and its primary function is to protect the lungs from neutrophil elastase. Neutrophil elastase is an enzyme that digests damaged or aging cells and bacteria to promote healing.

In the lungs, AAT deficiency causes chronic obstructive pulmonary disease (COPD).

Alpha-1 antitrypsin deficiency is inherited by autosomal co-dominant transmission, meaning that affected people have inherited an abnormal AAT gene from each parent.
 

Symptoms

  • Alpha-1 antitrypsin deficiency affecting the lungs presents with shortness of breath, coughing, wheezing.
  • Alpha-1 antitrypsin deficiency affecting skin presents with hot, painful, red nodules or plaques characteristically on the thigh or buttocks.
  • Jaundice (yellowing of the skin and eyes), weight loss, abdominal swelling, dark urine, spontaneous bleeding, confusion can be the presenting symptoms of liver involvement.
     

Complications

  • Chronic obstructive pulmonary disease (COPD)
  • Panniculitis (inflammation in the fat layer under your skin)
  • Chronic hepatitis
  • Liver cirrhosis
  • Hepatocellular carcinoma
  • Spontaneous pneumothorax (sudden onset of collapsed lungs)
     

Diagnosis

  • The diagnosis of severe alpha-1 antitrypsin deficiency is confirmed by demonstrating a serum level below 11 micromol/L in combination with symptoms and signs of the deficiency.
  • Pulmonary function testing is used to assess the presence and severity of lung disease.
  • Chest imaging is done to determine the pattern and extent of lung involvement.
     

Lifestyle management

  • Follow a healthy diet and exercise program as recommended by your doctor.
  • Do not smoke cigarettes. If you smoke, quit smoking as smoking is known to accelerate the progression of lung disease.
  • Maintain healthy body weight.
  • People with alpha-1 antitrypsin deficiency should be up to date with all the vaccinations. Talk to your doctor about influenza and pneumococcal vaccinations.
     

Medical management

  • Intravenous alpha-1 antitrypsin protein from human pooled plasma is given to correct the low blood levels of deficiency.
  • In selected people with advanced COPD bullectomy or lung volume reduction surgery may be recommended.
  • Lung transplantation may be an option for some people.
  • Liver transplantation is done in people with cirrhosis.

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