Alpha-1 Antitrypsin Deficiency: An In-Depth Guide

What is Alpha-1 Antitrypsin Deficiency?

Alpha-1 antitrypsin (AAT) deficiency is a rare genetic disorder that affects the liver and lungs. It occurs when the body does not produce enough AAT, a protein that protects the lungs from damage caused by inflammation and infection.

AAT deficiency can lead to serious health problems, including liver disease, emphysema, and chronic obstructive pulmonary disease (COPD). It can also increase the risk of developing lung cancer.

Symptoms of Alpha-1 Antitrypsin Deficiency

The symptoms of AAT deficiency can vary depending on the severity of the condition. Some people may have no symptoms, while others may experience severe lung or liver problems.

Common symptoms of AAT deficiency include:

• Shortness of breath
• Wheezing
• Coughing
• Frequent respiratory infections
• Liver disease
• Swelling in the legs and ankles
• Yellowing of the skin and eyes

Causes of Alpha-1 Antitrypsin Deficiency

AAT deficiency is caused by a mutation in the SERPINA1 gene, which provides instructions for making AAT. This mutation can be inherited from either parent.

There are two main types of AAT deficiency:

• ZZ phenotype: This is the most severe type of AAT deficiency. It occurs when a person inherits two copies of the mutated SERPINA1 gene, one from each parent.
• MZ phenotype: This is a less severe type of AAT deficiency. It occurs when a person inherits one copy of the mutated SERPINA1 gene and one copy of the normal gene.

Diagnosis of Alpha-1 Antitrypsin Deficiency

AAT deficiency is diagnosed with a blood test that measures the level of AAT in the blood. A genetic test can also be used to confirm the diagnosis.

It is important to diagnose AAT deficiency early so that treatment can be started as soon as possible.

Treatment of Alpha-1 Antitrypsin Deficiency

There is no cure for AAT deficiency, but treatment can help to prevent or slow the progression of the condition.

Treatment options for AAT deficiency include:

• AAT augmentation therapy: This treatment involves receiving infusions of AAT to increase the level of AAT in the blood.
• Lung transplantation: This surgery may be necessary for people with severe lung damage.
• Liver transplantation: This surgery may be necessary for people with severe liver damage.
• Medications: Medications can be used to treat the symptoms of AAT deficiency, such as shortness of breath and coughing.

Prognosis of Alpha-1 Antitrypsin Deficiency

The prognosis for AAT deficiency varies depending on the severity of the condition.

People with mild AAT deficiency may have a normal life expectancy. However, people with severe AAT deficiency may have a shortened life expectancy.

With early diagnosis and treatment, the prognosis for AAT deficiency can be improved.

Prevention of Alpha-1 Antitrypsin Deficiency

There is no way to prevent AAT deficiency. However, people who are at risk of having a child with AAT deficiency can undergo genetic counseling.

Genetic counseling can help people to understand the risks of AAT deficiency and to make informed decisions about their reproductive options.