Alpha-1 Antitrypsin Deficiency Program

The alpha-1 antitrypsin deficiency program at UC San Diego Health is certified by the Alpha-1 Foundation.

This distinction recognizes our dedication to the care, advancement of research, and treatments for individuals with Alpha-1 deficiency.

Our program is led by Dr. Kamyar Afshar, who is nationally recognized 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.

Multidisciplinary Approach to Alpha-1 antitrypsin Deficiency

UC San Diego Health 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 antitrypsin 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, we offer a multidisciplinary approach to this condition.

Our team partners with physicians and surgeons with expertise in their respective specialties related to alpha-1 antitrypsin deficiency, including dermatologists, hepatologists and liver/lung transplant teams.

Additional Services

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

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