Alpha-1 Antitrypsin Deficiency: Symptoms, Treatment

Overview

Alpha-1 antitrypsin deficiency is an inherited disorder that may cause lung disease and liver disease. Alpha-1 antitrypsin (AAT) is a protein produced primarily in the liver. Its function is to protect the lungs. If the AAT proteins are not in the right shape, they get stuck in the liver cells and cannot reach the lungs. This results in the destruction of lung tissue and the development of emphysema. People with AAT deficiency may have a normal lifespan. However, those who smoke cigarettes have a faster decline in lung function and develop earlier lung disease.

This disorder affects about 1 in 1,500 to 3,500 individuals with European ancestry. It is uncommon in people of Asian descent. When AAT deficiency affects the lungs, it often leads to chronic obstructive pulmonary disease (COPD) with chronic bronchitis.

Causes

AAT deficiency is a hereditary (or inherited) condition. Mutations in the SERPINA1 gene cause it. The mutations lead to a shortage of AAT or an abnormal form of the AAT protein. It happens when one or both parents pass an abnormal gene to their child. Environmental factors, such as exposure to tobacco smoke, chemicals, and dust, likely impact the severity of alpha-1 antitrypsin deficiency.

Symptoms

Symptoms of AAT deficiency include:

  • Shortness of breath
  • Excessive cough with mucus
  • Wheezing
  • Chest pain when breathing in
  • Tiredness
  • Loss of appetite
  • Weight loss
  • Swelling of the feet or belly
  • Yellowish discoloration of the skin (jaundice)
  • White part of the eyes
  • Vomiting of blood
  • Blood in stools
  • Warm, red, painful lumps under the skin

Diagnosis

All individuals with COPD or emphysema, regardless of age or ethnicity should be tested for AAT deficiency. The tests used to diagnose the condition are:

  • screening blood test to check the level of AAT (A level between 100-190 mg/dL is normal.)
  • genetic testing (from a blood test) to identify the mutated gene
  • lung function test or spirometry to measure your breathing ability
  • chest X-ray or CT scan of your lungs
  • blood testing of liver function
  • (in some cases) an ultrasound of the liver

Treatment

If you are diagnosed with AAT deficiency, your doctor may or may not suggest treatment based on the results of other testing and severity of your symptoms.

If you have no symptoms, you need to return for follow-up. You should decrease alcohol drinking, get regular exercise and control your weight. A pneumonia vaccine every 5 years and flu vaccine every year may be also suggested.

If you have lung disease, treatment may include:

  • prescribed inhaled medications to control symptoms of emphysema
  • referral to a pulmonary rehabilitation program
  • antibiotics and inhaled corticosteroids to control symptoms of flare ups, infections or exacerbations
  • augmentation therapy or AAT replacement therapy to add purified, human AAT directly into the person’s blood through intravenous (IV) infusion
  • lung volume reduction surgery (LVRS) or lung transplantation for patients with advanced lung disease

If you have liver disease, you will take frequent monitoring of liver function. In severe cases, you may be suggested liver transplantation.

If you have any problem, please ask your doctor for help.


Keywords: alpha-1 antitrypsin deficiency.

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* The Content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition.