The Alpha-1 antitrypsin deficiency program at the University of Chicago Medicine was the first program in Illinois certified by the Alpha-1 Foundation. This distinction recognizes our comprehensive approach, our experience in treating advanced liver and lung damage and our focused expertise addressing the many dimensions of this rare genetic disease.

Our Alpha-1 program draws patients from throughout the Midwest, giving patients access to leading-edge interventions available at only select medical centers nationwide.

About Alpha-1 Antitrypsin Deficiency

Alpha-1 antitrypsin deficiency (sometimes shortened to Alpha-1) is an inherited condition where your body cannot produce enough of the Alpha-1 antitrypsin protein. This protein is produced in the liver and plays an important role in keeping your lungs healthy by protecting them from a specific enzyme called neutrophil elastase. Without enough Alpha-1 antitrypsin, the damaging enzyme isn’t regulated and is able to cause excess damage to your lung tissue. The deficiency can also cause complications to your liver and skin.

Ideally, people inherit two normal genes (one from each parent) responsible for producing Alpha-1 antitrypsin protein. Some people inherit one normal gene and one flawed gene. With one healthy gene, you may produce a lower level of the Alpha-1 protein than normal, but for most people this doesn’t lead to any issues of health. Carriers who smoke are at a 10 times higher risk for lung disease than the average person. If both parents are carriers of the deficiency, it’s possible to inherit two flawed genes. People with two flawed genes cannot produce enough Alpha-1 protein and are at risk for more severe illness.

Alpha-1 antitrypsin deficiency can cause:

Because it is an uncommon condition, Alpha-1 deficiency often goes undiagnosed until patients experience complications such as COPD, emphysema, asthma, chronic bronchitis or chronic liver disease. The average patient with this genetic deficiency experiences symptoms for seven years before receiving a proper diagnosis.

Early diagnosis offers people the best long-term outlook. With early diagnosis, treatment can begin before the lungs and liver are seriously damaged. To promote early diagnosis, UChicago Medicine encourages family members of people who've been diagnosed with this deficiency to get blood test screenings through their doctors or through the free testing offered by the Alpha One Foundation.

Alpha-1 antitrypsin deficiency cannot be cured, but it can be controlled with medicine. Supplementing the missing protein through medications helps to prevent damage to the lungs.

At UChicago Medicine, treatment begins with an extended consultation with D. Kyle Hogarth, MD, our expert physician who is board certified in pulmonary and critical care medicine. Dr. Hogarth has focused expertise in Alpha-1 disease and schedules new consultations for one hour appointments to meet and talk with patients and family members. This helps you understand your diagnosis, ask questions and address concerns. We also provide subsequent consultations on an ongoing basis as your needs change or new questions arise about your health. We actively work with your local doctor to help with your condition via direct communication between Dr. Hogarth and your team.

UChicago Medicine offers both standard and leading-edge investigational drug therapies. Standard treatment requires weekly infusions of medications that replace the missing Alpha-1 protein. Patients learn how to administer this infusion at home or go to infusion centers.

Some patients may be eligible to participate in clinical trials of promising new drugs. UChicago Medicine physicians are actively involved in research aimed at expanding treatment options for people with Alpha-1 antitrypsin deficiency, so patients here are often among the first in the country to access new treatment options.

Because this is a life-long condition, it’s impractical for patients who live far from UChicago Medicine to come here for ongoing care. After initial treatment planning, our Alpha-1 specialist physician will coordinate with your local physician for ongoing medical management closer to home. You may decide to return to our medical center at any time to address more complex medical needs, such as an organ transplant to replace a severely damaged liver or lung.

Alpha-1 antitrypsin deficiency can cause various medical complications of the lungs, liver, and skin, including COPD, emphysema, chronic bronchitis, cirrhosis of the liver, panniculitis (inflammation of fatty tissue under the skin) and other side effects of the excess enzyme.

UChicago Medicine’s multidisciplinary approach addresses these complications by drawing in other expert physicians who have expertise in these other areas, including liver specialists, additional pulmonologists who focus on COPD and other lung diseases, skin specialists known as dermatologists, and transplant surgeons as needed. Patients with cirrhosis, for example, would receive care from a hepatologist (liver specialist). With the primary Alpha-1 specialist overseeing your care and ongoing communication between various UChicago Medicine physicians, you will benefit from a well-coordinated approach to manage your disease and its related complications.

Some individuals with advanced disease eventually require a lung or liver transplant to replace a severely damaged organ. UChicago Medicine is one of the leading transplant centers in the United States, so you can be reassured that all the resources you may need are right here if an organ transplant becomes necessary.

UChicago Medicine applies a comprehensive approach to managing Alpha-1 deficiency. In addition to medical care directed by physicians, you may also benefit from additional services we provide. This includes:

  • Comprehensive pulmonary rehabilitation to increase your lung function and overall energy level
  • Genetic counseling to address the inherited aspect of this disorder

  • Nutrition services provided by registered dietitians to address nutrient deficiencies and develop guidelines for healthy eating

  • Patient education, which is an important component for life-long management of Alpha-1

  • Smoking cessation classes and counseling

     

 

Physicians at UChicago Medicine are national leaders in evaluating new treatments that may someday offer more effective ways to control Alpha-1 antitrypsin deficiency. We are actively involved in clinical research of new treatments and have published multiple articles in medical journals.