Alpha-1 Antitrypsin Deficiency

The Alpha-1 antitrypsin deficiency program at the University of Chicago Medicine is the first program in Illinois certified by the Alpha-1 Foundation. This distinction recognizes the University of Chicago’s comprehensive approach and focused expertise in addressing the many dimensions of this rare disease, including the medical center’s ability to treat advanced liver and lung damage, as well as our experience in liver and lung transplantation. The program here is led by a physician who is nationally known for his expertise and research in Alpha-1 deficiency.

The Alpha-1 program draws patients to our medical center from throughout the Midwest, and as far away as Alaska. Patients have access to leading-edge interventions available at only select medical centers nationwide, as well as standard therapies.

About Alpha-1 Antitrypsin Deficiency

Alpha-1 antitrypsin deficiency (sometimes called Alpha-1) is an inherited condition that results when the body cannot produce enough of the Alpha-1 antitrypsin protein -- a protein produced in the liver. This protein plays an important role in keeping the lungs healthy by protecting the lungs from a specific enzyme (neutrophil elastase). Without enough Alpha-1 antitrypsin, the enzyme accumulates in excess and causes damage to lung tissue. It also can cause complications to the liver and skin.

Ideally, people inherit two genes (one from each parent) responsible for producing Alpha-1 antitrypsin protein. Some people with Alpha-1 deficiency inherit one normal gene and one flawed gene. With one healthy gene, these people may produce a low level of the Alpha-1 protein and, therefore, have milder symptoms. If both parents are carriers of the deficiency, it’s possible to inherit two flawed genes. People with two flawed genes cannot produce any Alpha-1 protein and, therefore, are at risk for more severe illness.

Alpha-1 antitrypsin deficiency can result in:

Lung disease and lung damage

Cirrhosis (scarring) of the liver

Chronic obstructive pulmonary disease (COPD)

Emphysema

Chronic bronchitis

Skin problems

Because it is not a common condition, Alpha-1 deficiency often goes undiagnosed until the person experiences 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 a proper diagnosis is made.

Early diagnosis offers the best long-term outlook. With early diagnosis, treatment can begin before the lungs and liver are seriously damaged. To encourage early diagnosis, the University of Chicago Medicine provides blood test screenings to family members of people diagnosed with this deficiency free of charge.

Our Approach to Managing Alpha-1 Deficiency

Alpha-1 antitrypsin deficiency cannot be cured, but it can be controlled with drug therapy. Supplementing the missing protein through medications helps to prevent damage to the lungs, liver and other organs.

At the University of Chicago Medicine, treatment begins with an extended consultation with D. Kyle Hogarth, MD, our physician expert who is board certified in pulmonary and critical care medicine as well as internal medicine, and who has focused expertise in Alpha-1 disease. The physician devotes at least two hours to meet and talk with the patient (and family, if desired). This is a very helpful opportunity for the patient and family to understand the diagnosis, ask questions and address concerns. Subsequent consultation with the physician and team also is provided on an ongoing basis as needs change or questions arise.

The University of Chicago Medicine offers patients both standard and leading-edge investigational drug therapies. Standard treatment requires weekly infusion of medications that replace the missing Alpha-1 protein. Patients learn how to administer this infusion within the convenience of their homes.

Additionally, some patients may be appropriate for clinical trials of promising new drugs. Physicians at the University of Chicago Medicine are actively involved in research aimed at expanding treatment options for individuals with Alpha-1 antitrypsin deficiency, so patients here are among the first in the United States with access to many new treatment options.

Because this is a chronic (life-long) condition, it’s impractical for patients who live far from the University of Chicago to come here for ongoing care. After initial treatment planning at the University of Chicago, our Alpha-1 specialist physician will coordinate with each patient’s local physician for ongoing medical management closer to home. Patients 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.

Multidisciplinary Care to Address Complex Needs

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.

The University of Chicago Medicine’s multidisciplinary approach addresses these varied complications by drawing in other University of Chicago physicians who have expertise in these other areas, including hepatologists, additional pulmonologists who focus on COPD and other lung diseases, dermatologists and transplant surgeons as needed, based on the individual patient’s disease. Patients with cirrhosis, for example, would receive care from a hepatologist (liver specialist). With the primary Alpha-1 specialist overseeing each patient’s care and ongoing communication between the various University of Chicago physicians, patients benefit from a well-coordinated approach to management of their disease and related complications.

A Leader in Organ Transplantation

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

Support Services Round Out Disease Management

The University of Chicago Medicine applies a comprehensive approach to managing Alpha-1 deficiency. In addition to medical care directed by physicians, patients may benefit from addition services provided here, including:

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

Research Aims to Find New Solutions

Physicians at University of Chicago Medicine are national leaders in evaluating new treatments that may someday offer more effective ways to control Alpha-1 antitrypsin deficiency. The program leader is actively involved in clinical research of new treatments, and has published multiple articles in medical journals. Additionally, the physician leader is an active proponent nationally to encourage routine screening for Alpha-1 deficiency. Routine blood testing would allow for early detection and treatment -- before complications occur.

Free Family Testing Aims to Prevent Complications

As a genetic disorder, Alpha-1 antitrypsin deficiency runs in families. By offering free and confidential testing, the University of Chicago Medicine is proactive in identifying extended family members with Alpha-1 deficiency as early as possible. The earliest diagnosis offers the best opportunity to prevent the irreversible damage caused by this protein deficiency.