CONTACT: TOM MOORE
Joint Office for Planning, Marketing and Communications
8788 John Pappajohn Pavilion
Iowa City IA 52242
Release: Dec. 23, 2002
(Photo: Jeffrey Wilson, M.D., University of Iowa associate professor (clinical)
of internal medicine and a lung specialist at UI Hospitals and Clinics.)
UI lung specialist says serious disorder is largely unknown
physicians are spreading the word about a genetic disorder that can cause
life-threatening lung or liver disease but is not widely recognized.
The genetic disorder is called Alpha-1 Antitrypsin Deficiency (AAT Deficiency).
An estimated 80,000 to 100,000 Americans are living with severe AAT Deficiency,
but less than 10 percent have been diagnosed. Alpha-1 Antitrypsin is a protein
made largely in the liver that helps protect the lungs against damage from
smoking and environmental respiratory irritants. In most patients with AAT
Deficiency, the protein cannot get out of the liver cells and into the blood
stream as it normally would.
"AAT Deficiency is one of the most common serious hereditary disorders,"
said Jeffrey Wilson, M.D., University of Iowa associate professor (clinical)
of internal medicine and a lung specialist at UI Hospitals and Clinics. "It
can result in potentially fatal lung or liver disease in adults and liver
disease among children."
AAT Deficiency can lead to lung destruction (emphysema) and is often misdiagnosed
as asthma or smoking-related chronic obstructive pulmonary disease (COPD).
The disorder can also lead to liver failure during childhood and may also
cause progressive liver damage in adults. It is often undetected until it
reaches a life-threatening stage.
"If AAT Deficiency is detected early, we can intervene with smoking
cessation, if appropriate, and we can replace the deficient protein with regular
intravenous infusions. This may prevent some of the respiratory complications,
or at least slow the progress of the disorder," Wilson explained. However,
one study showed it took seven years on average from the time respiratory
symptoms first appear until the proper diagnosis is made, even though AAT
Deficiency can be detected by a simple blood test.
The most common symptoms of AAT Deficiency include shortness of breath,
wheezing, decreased tolerance for exercise, recurring respiratory infections
and rapid deterioration of lung function with or without a history of significant
smoking, chronic liver problems and elevated liver enzymes.
The World Health Organization (WHO) recommends that everyone with COPD and
adults or adolescents with asthma be screened for AAT Deficiency. Anyone with
a family history of the disease should discuss being tested for AAT Deficiency
with a physician.
More information is available by calling the Alpha-1 Foundation toll-free
at (877) CURE A1 (or 1-877-228-7321), or visit the foundation online at www.alphaone.org.
University of Iowa Health Care describes the partnership between the
UI Roy J. and Lucille A. Carver College of Medicine and UI Hospitals and Clinics
and the patient care, medical education and research programs and services
they provide. Visit UI Health Care online at www.uihealthcare.com.