Learn More About Alpha-1 Antitrypsin Deficiency

Symptoms

The first symptoms of alpha-1 antitrypsin deficiency (AATD) usually occur between ages 20 and 40. Symptoms can include shortness of breath, wheezing, and reduced physical endurance, as well as lung infections, vision problems, tiredness, weight loss, and a rapid heartbeat upon standing.

People with severe AATD can develop emphysema early in life (between ages 40 and 50). Emphysema causes a chronic cough, trouble breathing, and wheezing. That’s why AATD is often misdiagnosed as asthma.

Other potential complications of AATD include cirrhosis and other liver diseases, often diagnosed in infancy and early childhood. Rarely, people with AATD can develop a painful skin disease called necrotizing panniculitis.

People with AATD are more susceptible to life-threatening lung diseases. Smoking and exposure to tobacco smoke are the most significant risk factors. Exposure to toxic substances, dust, and fumes are also risk factors.


Causes

People with AATD inherit the condition from their parents. The most common defective genes tied to AATD are known as S and Z, while M is considered normal. So, a person without AATD will have two M genes (MM). Generally, people with one faulty AAT gene are carriers of the disorder, while people with two faulty AAT genes have the disorder. However, even people with two faulty genes might never have complications or even know they have AATD. The table below shows how AAT genes relate to circulating AAT protein levels and associated lung disease.

 

AAT Gene

Diagnosis

Serum AAT Levels:

Risk of Emphysema

μM

mg/dL

MM

Normal

20-48

150-350

Normal (low)

MS

Carrier

Unknown

Unknown

Low

MZ

Carrier

17-33

90-120

Possibly increased

SS

AAT Deficient

15-33

100-200

Unknown

SZ

AAT Deficient

8-16

75-120

Likely increased

ZZ

AAT Deficient

2.5-7

20-45

Definitely increased

Z-Null

AAT Deficient

Unknown

Unknown

Definitely increased

Null-Null

AAT Deficient

0

0

Definitely increased

Treatment

There is no cure for AATD, but the related lung diseases can be treated. Importantly, not smoking (or quitting smoking) will help delay or prevent lung diseases. A healthy diet and a suitable level of regular physical activity will help maintain lung function.

Alpha-1 augmentation therapy might be prescribed in severe cases to help slow a decline in lung function. Augmentation therapy is the infusion of an alpha-1 proteinase inhibitor (A1Pi) into the bloodstream. This can be administered safely at home with the help of a nurse. Diplomat Specialty Infusion Group offers multiple brands of A1Pi treatments — including Aralast®, Glassia®, and Zemaira® — and can provide qualified in-home nursing service.

Source: National Heart, Lung, and Blood Institute
The information contained herein may not be construed as medical advice. It is for educational purposes only. Diplomat Pharmacy Inc. takes no responsibility for the accuracy or validity of the information contained herein, nor the claims or statements of any manufacturer.