Which medical specialties manage alpha‑1 antitrypsin deficiency?

Which Medical Specialties Manage Alpha-1 Antitrypsin Deficiency?

Alpha-1 antitrypsin deficiency requires multidisciplinary care coordinated primarily by pulmonologists for lung disease and hepatologists/gastroenterologists for liver disease, with additional involvement from primary care physicians, transplant surgeons, and geneticists depending on disease manifestations. 1, 2

Primary Specialty Management

Pulmonology/Respiratory Medicine

• Pulmonologists are the primary specialists managing the respiratory manifestations of alpha-1 antitrypsin deficiency, including emphysema, COPD, and bronchiectasis. 1, 2
• They oversee augmentation therapy (60 mg/kg weekly intravenous infusions), which is specifically indicated for severe hereditary deficiency with clinically evident emphysema. 1, 2
• Pulmonologists manage standard COPD therapies including bronchodilators, inhaled corticosteroids, supplemental oxygen, and pulmonary rehabilitation. 1, 3
• They coordinate lung volume reduction surgery evaluation and lung transplantation referrals for end-stage disease. 1, 2

Hepatology/Gastroenterology

• Hepatologists manage the liver manifestations, which affect 30-40% of PI*ZZ patients over age 50 and represent a significant cause of death in nonsmoking individuals. 4, 3
• They perform surveillance with physical examination, liver function tests, and abdominal ultrasound at regular intervals. 4, 2
• For patients ≥50 years with decompensated cirrhosis, hepatologists coordinate periodic CT imaging for hepatocellular carcinoma surveillance (alpha-fetoprotein alone is insufficient). 4
• Liver transplantation is the only definitive treatment for advanced liver disease, as augmentation therapy provides no hepatic benefit. 4

Supporting Specialties

Primary Care/Internal Medicine

• Primary care physicians play a critical role in early detection through screening programs, as expanded efforts are needed to increase awareness among primary care and subspecialist physicians. 1
• They coordinate smoking cessation interventions, which is the single most important intervention (smokers have life expectancy <20 years after diagnosis). 2, 3
• Primary care manages vaccination protocols: annual influenza, pneumococcal every 5 years, and hepatitis A and B vaccines. 4, 2, 3

Transplant Surgery

• Thoracic surgeons evaluate and perform lung transplantation, which is the only treatment option for terminal lung disease. 2
• Transplant hepatologists and surgeons manage liver transplantation, which achieves excellent outcomes (pediatric 5-year survival ≈92%; adult 3-year survival ≈84%). 4
• Alpha-1 antitrypsin deficiency is the leading inherited cause of liver transplantation in children. 4

Medical Genetics

• Geneticists facilitate family screening, as siblings of heterozygous individuals have a 25% chance of being heterozygous, and offspring have a 25% chance. 2
• They perform definitive diagnostic testing via DNA sequencing of the SERPINA1 gene, which is the gold standard surpassing isoelectric focusing. 2

Pediatrics

• Pediatric hepatologists manage neonatal cholestasis (PI*ZZ is a common cause), though most cases resolve spontaneously. 4
• Approximately 25% of infants with neonatal cholestasis progress to cirrhosis within the first decade, requiring pediatric hepatology follow-up. 4

Common Clinical Pitfalls

• Do not use augmentation therapy for liver disease—it lacks efficacy for hepatic manifestations and should only be used for pulmonary indications. 4, 3
• Do not overlook liver disease monitoring in patients focused on pulmonary care, as cirrhosis and hepatocellular carcinoma are significant causes of mortality, particularly in elderly never-smokers who survive without severe emphysema. 1, 4, 3
• Ensure smoking cessation before initiating augmentation therapy—active smoking is an absolute contraindication. 2
• Recognize that patients present across multiple disciplines due to variable disease manifestations, which can lead to fragmented care and omission of critical interventions. 5