Alpha-1 Antitrypsin Deficiency (AATD) is a genetic condition that increases the risk of developing lung and liver disease. This disorder is caused by a mutation in the SERPINA1 gene, which leads to a deficiency of the protective Alpha-1 antitrypsin (AAT) protein in the bloodstream and lungs. Simultaneously, the misfolded protein builds up in the liver. Managing AATD requires a collaborative team of healthcare professionals, working from initial identification through long-term specialized treatment.
Identifying the Deficiency: The Diagnostic Team
The journey to an AATD diagnosis often begins with a general practitioner or primary care physician (PCP) who notes a patient’s unexplained or persistent symptoms. These commonly include shortness of breath, chronic cough, or recurrent respiratory infections. The PCP plays a role in recognizing the need for specialized testing, especially when Chronic Obstructive Pulmonary Disease (COPD) is diagnosed early (under 55), or when there is an unexplained liver issue or a family history of the disorder.
Confirmation is achieved through specific laboratory tests. A blood test measures the serum level of the AAT protein; a low level suggests the genetic disorder. If the AAT level is low, the sample is sent for definitive genetic testing to identify the specific mutation in the SERPINA1 gene and confirm the diagnosis.
Genetic counselors or medical geneticists then explain the hereditary nature of AATD. They discuss the risk of passing the condition to children and provide counseling for family planning. They also facilitate cascade testing, which screens first-degree relatives to identify other affected family members who may benefit from early intervention.
Specialized Care for Organ Systems
Long-term management of AATD is primarily handled by specialists aligned with the affected organ systems. Pulmonologists are the primary specialists for many patients, managing the emphysema and chronic lung disease associated with AATD. They prescribe inhalers, bronchodilators, and inhaled corticosteroids to manage symptoms and prevent exacerbations.
Pulmonologists routinely monitor lung function using tests like spirometry to track airflow obstruction. They determine the need for supplemental oxygen therapy and prescribe augmentation therapy for eligible patients. For individuals with severe, end-stage lung disease, the pulmonologist evaluates suitability and coordinates a lung transplant.
Hepatologists or gastroenterologists manage liver involvement, where the misfolded AAT protein accumulates and can cause damage leading to cirrhosis or liver cancer. Hepatologists monitor liver health through blood tests, ultrasounds, and specialized imaging to assess for fibrosis or scarring. Since there is currently no specific drug treatment for AATD-related liver disease, the hepatologist’s role centers on supportive care. This includes managing complications like portal hypertension and advising on lifestyle modifications. They also evaluate patients for a curative liver transplant in cases of severe, progressive liver failure.
Administering Augmentation Therapy
Alpha-1 protein augmentation therapy is often prescribed for patients with AATD-related emphysema to slow lung damage. This therapy involves the regular, typically weekly, infusion of purified AAT protein sourced from the plasma of healthy human donors. This treatment maintains protective AAT levels in the lungs.
Infusion nurses manage the delivery of this intravenous treatment. They are trained in administering the product, managing intravenous access (such as a peripheral IV or implanted port), and monitoring for reactions.
Infusions may occur in a specialized clinic, a hospital outpatient department, or the patient’s home. Home-based infusions require coordination between home health agencies, the prescribing pulmonologist, and the specialty pharmacy. Respiratory therapists may also provide education and monitoring related to the patient’s breathing and respiratory equipment.
The Role of Supportive Care Professionals
A team of ancillary professionals provides comprehensive supportive care for individuals living with AATD. Pulmonary rehabilitation specialists, including physical and respiratory therapists, improve the patient’s physical stamina and quality of life. They guide patients through tailored exercise programs and teach effective breathing techniques to maximize lung capacity.
Registered dietitians and nutritionists offer personalized dietary counseling. This is important for maintaining a healthy weight and supporting liver function by ensuring adequate energy and nutrients. Genetic counselors remain a resource post-diagnosis, providing ongoing support regarding family testing and risk assessment.
Social workers and patient advocacy organizations connect patients with essential non-medical resources. Social workers help navigate the healthcare system, assist with insurance issues, and locate financial aid programs. Advocacy groups offer emotional support and community connection.