Alpha 1-Antitrypsin Deficiency

​The alpha 1-antitrypsin deficiency program at the UC San Diego Health is certified by the Alpha-1 Foundation. This distinction recognizes our program's dedication to the care, advancement of research and treatments for individuals with Alpha-1 deficiency. Our program is led by a Dr. Kamyar Ashfar nationally recognized physician for his expertise in alpha 1-antitrypsin deficiency.

What is Alpha 1-antitrypsin Deficiency?

Alpha-1 antitrypsin (AAT) deficiency  is a relatively common genetic condition that is often under-recognized. Alpha-1 antitrypsin is a protein that protects us from enzymes that destroy the lungs (causing emphysema or bronchiectasis). In some individuals, there is not enough production of the AAT protein. In others, the AAT proteins are produced in the wrong shape and they get stuck in the liver cells (causing emphysema or bronchiectasis as well as liver disease).

There are many types of abnormal alpha-1 antitrypsin genes. The most common abnormal genes are called S and Z. Normal genes are called M. A person who does not have Alpha-1 will have two M genes (MM). Some people even with 2 abnormal genes have no symptoms and do not develop complications. In others, symptoms can present related to the lung and/or liver.

AAT Deficiency Symptoms Related to the Lung:

  • Shortness of breath
  •  Wheezing
  • Chronic bronchitis, which is cough and sputum (phlegm) production that lasts for a long time
  • Recurring chest colds
  • Less exercise tolerance
  • Asthma that can’t be completely reversed with aggressive medical treatment
  • Year-round allergies
  • Bronchiectasis

Symptoms related to the liver:

  • Unexplained liver disease or elevated liver enzyme
  • Eyes and skin turning yellow (jaundice)
  • Swelling of the abdomen (ascites) or leg
  • Vomiting blood (from enlarged veins in the esophagus or stomach)

Multidisciplinary Approach to Alpha 1-antitrypsin Deficiency

The UC San Diego Health Advanced Lung Disease Program offers patients with alpha 1-antitrypsin deficiency both standard and cutting-edge investigational therapies. Standard treatment requires therapy for the underlying condition (emphysema or bronchiectasis) along with weekly infusions of alpha-1 protein replacement therapy. Infusions may be administered at an infusion center or at home.

Our clinical experts are actively involved in expanding horizons in the area of research for alpha 1-antitryspin deficiency. Some patients may be suitable candidates for clinical trials offered at UC San Diego Health.

Because alpha-1 antitrypsin deficiency can affect various organs and is potentially progressive in nature, we offer a multidisciplinary approach to this condition. Our team partners with physicians and surgeons who have expertise in their respective specialties as they relate to alpha 1-antitryspin deficiency, including dermatologists, hepatologists and the liver/lung transplant teams.

In addition to medical care, patients will benefit from additional services provided to improve their health and empower them with the knowledge of alpha 1-antitrypsin deficiency. These include:  

  • Pulmonary rehabilitation to improve breathing techniques and functional status
  • Genetic counseling
  • Smoking cessation counseling
  • Nutritional education and services provided by registered dietitians

Appointments & Referrals

Pulmonary Medicine Locations

La Jolla

Related Specialists

Pulmonary Research & Clinical Trials

Our doctors are actively involved in clinical trials evaluating new therapies and tools for treating lung conditions. Learn more.