Summary about Disease
Alpha-1 Antitrypsin Deficiency (AATD) is a genetic condition that can cause lung disease, liver disease, and rarely, skin conditions. It is caused by a deficiency of the alpha-1 antitrypsin (AAT) protein, which is produced in the liver and helps protect the lungs from damage caused by enzymes like neutrophil elastase. People with AATD have lower levels of AAT in their blood, which can lead to lung damage (emphysema) and liver problems (cirrhosis).
Symptoms
Symptoms of AATD vary depending on the severity of the deficiency and the organs affected. Common symptoms include:
Lung disease: Shortness of breath, wheezing, chronic cough, frequent respiratory infections, early-onset emphysema (often in the 30s or 40s), asthma-like symptoms.
Liver disease: Jaundice (yellowing of the skin and eyes), swollen abdomen, fatigue, cirrhosis, liver failure, elevated liver enzymes.
Skin conditions: Panniculitis (painful, inflamed nodules under the skin, most often on the lower extremities).
In infants: Jaundice, poor feeding, failure to thrive.
Causes
AATD is a genetic disorder caused by mutations in the SERPINA1 gene, which provides instructions for making the AAT protein. Individuals inherit two copies of this gene, one from each parent. If a person inherits one normal gene and one defective gene, they are usually carriers and may not have significant symptoms. However, if a person inherits two defective genes, they will have AATD. The most common defective gene is called PiZ.
Medicine Used
Treatment for AATD focuses on managing the symptoms and preventing further damage to the lungs and liver. Medicines used may include:
Augmentation therapy: Intravenous infusions of purified AAT protein derived from human plasma. This therapy aims to increase the level of AAT in the blood and protect the lungs. Examples include Prolastin, Aralast, Zemaira.
Bronchodilators: To open airways and ease breathing (e.g., albuterol).
Inhaled corticosteroids: To reduce inflammation in the airways (e.g., fluticasone).
Antibiotics: To treat respiratory infections.
Liver medications: To manage liver disease symptoms and complications.
Pain relievers: For Panniculitis.
Lung transplant: In severe cases of lung disease.
Liver transplant: In severe cases of liver disease.
Is Communicable
No, AATD is not communicable. It is a genetic disorder that is inherited from parents and cannot be spread from person to person.
Precautions
People with AATD should take the following precautions:
Avoid smoking: Smoking significantly accelerates lung damage in individuals with AATD.
Avoid secondhand smoke: Exposure to secondhand smoke can also damage the lungs.
Get vaccinated: Get vaccinated against influenza and pneumococcal pneumonia to prevent respiratory infections.
Maintain a healthy lifestyle: Eat a healthy diet, exercise regularly, and get enough sleep.
Avoid alcohol: People with liver involvement should avoid alcohol consumption.
Avoid occupational exposures: Exposure to dust, fumes, and other irritants in the workplace can worsen lung disease.
Inform healthcare providers: Let all healthcare providers know about the AATD diagnosis.
How long does an outbreak last?
AATD is not an infectious disease, thus the term "outbreak" is not applicable. AATD is a chronic condition that persists throughout a person's life, with symptoms and disease progression varying depending on the individual and the management strategies employed.
How is it diagnosed?
AATD is diagnosed through:
Blood test: Measuring the level of AAT in the blood. Low levels of AAT suggest AATD.
Genetic testing: Analyzing the SERPINA1 gene to identify specific mutations. This confirms the diagnosis and identifies the individual's genotype (the specific combination of gene variants).
Liver biopsy: In cases of suspected liver disease, a liver biopsy may be performed to assess the extent of liver damage.
Pulmonary function tests: To assess lung function and detect emphysema or other lung abnormalities.
Timeline of Symptoms
The timeline of symptoms varies considerably among individuals with AATD.
Infancy: Some infants with AATD may develop liver problems soon after birth, such as jaundice or elevated liver enzymes.
Childhood: Some children may experience mild liver problems or frequent respiratory infections.
Adulthood: Lung symptoms typically appear in adulthood, often in the 30s or 40s, especially in smokers. Liver problems may also develop in adulthood. Some individuals may remain asymptomatic for many years.
Late adulthood: Lung and liver disease progression can lead to significant morbidity and mortality in late adulthood if not properly managed.
Important Considerations
Genetic counseling: Genetic counseling is recommended for individuals with AATD and their families.
Family screening: Family members of individuals with AATD should be screened for the condition.
Early diagnosis: Early diagnosis and treatment are crucial to preventing or delaying the progression of lung and liver disease.
Multidisciplinary care: Management of AATD often requires a multidisciplinary approach involving pulmonologists, hepatologists, and other specialists.
Registry participation: Participation in AATD registries can help researchers better understand the condition and develop new treatments.
Smoking cessation: This is the single most important intervention for individuals with AATD.
Adherence to treatment: Consistent adherence to prescribed medications and lifestyle modifications is essential for managing AATD.