AAT DEFICIENCY - Overview, Facts, Types, Symptoms, Diagnosis
AAT DEFICIENCY

AAT DEFICIENCY

Alpha-1 antitrypsin or AAT deficiency is a hereditary condition that tends to develop significant lung and liver diseases. If your liver produces low amounts of the AAT protein, your lungs are more prone to deterioration caused by irritants and infections in the air.

Moreover, this can also lead to COPD or chronic obstructive pulmonary disease. When you have COPD, you’re more likely to feel tightness in your chest caused by emphysema, a severe illness that makes it difficult to exhale air from your lungs. COPD might also cause you to cough up phlegm, wheeze, or have difficulty breathing. Furthermore, this can also lead to chronic bronchitis.

SYMPTOMS

People with this type of condition won’t realize they have it unless they reach adulthood. Moreover, it affects the majority of adults over the age of 20s and 40s.

Symptoms for a lung infection that comes with AAT deficiency include:

  • Tiredness
  • Weight loss
  • Accelerated heartbeat upon suddenly moving or standing up

Meanwhile, when AAT deficiency causes liver problems, symptoms may include:

  • Inflamed belly or legs
  • Coughing up blood
  • A yellowish tint of eyes and skin

Moreover, newborn babies with this deficiency have:

  • Jaundice
  • Trouble gaining weight
  • Enlarged liver
  • Bleeding of umbilical stump or nose

In rare cases, patients develop panniculitis. This skin disease causes the skin to harden, which also comes with painful patches or lumps.

DIAGNOSIS

Physicians will conduct physical and lab tests, including blood tests, X-rays, and biopsy.

They will check how much damage the AAT deficiency caused and the amount of protein your liver produces. They will also check the oxygen levels in your blood and how much air you get into your lungs.

TREATMENT

Even though there is no cure for this deficiency, doctors conduct an augmentation or replacement therapy that will help increase the AAT protein in your liver to protect you from further complications. 

Patients get this treatment once a week through IV, and the supply of new AAT proteins comes from healthy donors.

Doctors will also prescribe bronchodilators or inhalers to open up their airways. If the patient has low oxygen levels, they will suggest pulmonary rehab to help with the breathing or attach a nosepiece or mask connected to an oxygen tank. Furthermore, these treatments are set for a lifetime, depending on how the patient reacts to the whole process. 

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