UK Healthcare earns designation as a resource center for alpha-1 antitrypsin deficiency
By Clay Wallace
December 28, 2025 at 4:02 PM EST
Alpha-1 antitrypsin deficiency (AATD) leaves lungs vulnerable to damage. Dr. Malik Khurram Khan, who leads UK's advanced COPD clinic, wants to see more people screened for the condition.
UK Healthcare has been designated an Alpha-1 Clinical Resource Center, providing care for a genetic condition that many people don't know they have.
AATD affects how the body produces a particular protein. This protein, when working properly, shields lungs from damage, but people with AATD don't have enough of it, or they have it in forms the body can't use. Over time, AATD can cause lung and liver disease.
The condition is inherited from both parents and is the most common genetic cause of COPD. AATD affects about one in every 3,500 people - an estimated 100,000 Americans - but it often goes undiagnosed.
"It's a rare disease, but it's not as rare as people think," said Dr. Malik Khurram Khan, a lung specialist at UK. "The biggest concern with alpha-1 antitrypsin deficiency right now is that a lot of people are not screened for it."
There are lots of reasons the disease goes undiagnosed. Many people aren't familiar with it, and symptoms can appear at different times for different people. Some people with AATD develop liver disease in infancy, while others don't notice lung symptoms until middle age.
Khan says the UK Healthcare's new designation as a Clinical Resource Center, granted in November by the Alpha-1 Foundation, will spread awareness of the disease to both patients and providers. It will also help people with AATD find the specialized care they need.
"We can provide the whole breadth of care for these patients and their families," said Dr. Khan.
Khan says anyone with COPD, emphysema, early-onset liver disease, or bronchiectasis should get screened for AATD, as well as those whose relatives have tested positive for the disease. Screening is simple - physicians at UK can order a blood test or patients can request a free kit from the Alpha-1 Foundation.
AATD doesn't have a cure, but there are treatments that can manage and slow the progression of the disease. One effective treatment is an augmentation therapy in which patients receive a weekly infusion of replacement protein.
"If we can diagnose somebody early on, we can give them the augmentation therapies and that may slow the progression of the disease process," Khan said.
Knowing about an AATD diagnosis can also help people take lifestyle steps to protect their lungs and liver. Even carriers who inherited the gene from only one parent and still produce some functional proteins may still have an increased risk of developing emphysema from environmental irritants like cigarette smoke and pollution.
In addition to smoking cessation programs, IV augmentation therapies and genetic counseling, the hospital also offers bronchoscopic lung volume reduction for advanced emphysema, advanced liver support, and both lung and liver transplantation for patients with end-stage AATD.
Beyond treating current patients, Khan hopes UK will serve as a hub for clinical trials of new treatments.
"We hope that with this we can be an avenue for more research," Khan said. "There is a lot of new potential therapies out there in the pipeline, and hopefully we can bring those therapies to our patients here locally in Kentucky."
AATD affects how the body produces a particular protein. This protein, when working properly, shields lungs from damage, but people with AATD don't have enough of it, or they have it in forms the body can't use. Over time, AATD can cause lung and liver disease.
The condition is inherited from both parents and is the most common genetic cause of COPD. AATD affects about one in every 3,500 people - an estimated 100,000 Americans - but it often goes undiagnosed.
"It's a rare disease, but it's not as rare as people think," said Dr. Malik Khurram Khan, a lung specialist at UK. "The biggest concern with alpha-1 antitrypsin deficiency right now is that a lot of people are not screened for it."
There are lots of reasons the disease goes undiagnosed. Many people aren't familiar with it, and symptoms can appear at different times for different people. Some people with AATD develop liver disease in infancy, while others don't notice lung symptoms until middle age.
Khan says the UK Healthcare's new designation as a Clinical Resource Center, granted in November by the Alpha-1 Foundation, will spread awareness of the disease to both patients and providers. It will also help people with AATD find the specialized care they need.
"We can provide the whole breadth of care for these patients and their families," said Dr. Khan.
Khan says anyone with COPD, emphysema, early-onset liver disease, or bronchiectasis should get screened for AATD, as well as those whose relatives have tested positive for the disease. Screening is simple - physicians at UK can order a blood test or patients can request a free kit from the Alpha-1 Foundation.
AATD doesn't have a cure, but there are treatments that can manage and slow the progression of the disease. One effective treatment is an augmentation therapy in which patients receive a weekly infusion of replacement protein.
"If we can diagnose somebody early on, we can give them the augmentation therapies and that may slow the progression of the disease process," Khan said.
Knowing about an AATD diagnosis can also help people take lifestyle steps to protect their lungs and liver. Even carriers who inherited the gene from only one parent and still produce some functional proteins may still have an increased risk of developing emphysema from environmental irritants like cigarette smoke and pollution.
In addition to smoking cessation programs, IV augmentation therapies and genetic counseling, the hospital also offers bronchoscopic lung volume reduction for advanced emphysema, advanced liver support, and both lung and liver transplantation for patients with end-stage AATD.
Beyond treating current patients, Khan hopes UK will serve as a hub for clinical trials of new treatments.
"We hope that with this we can be an avenue for more research," Khan said. "There is a lot of new potential therapies out there in the pipeline, and hopefully we can bring those therapies to our patients here locally in Kentucky."