Anyone diagnosed with COPD needs to know about, and be tested for, Alpha-1 Antitrypsin
Deficiency, which is more commonly referred to as Alpha-1. The World Health Organization (WHO)
and the American Thoracic Society (ATS) recommends that every patient with COPD is tested for
the Alpha-1 deficiency. All that is required is a simple blood test. Because Alpha-1 can lead to lung
disease, and is often misdiagnosed as COPD or asthmatic conditions, it is important that it be
diagnosed as early as possible. Alpha-1 is also known to some as "Inherited Emphysema" or "Inherited Liver Disease."
Alpha-1 is a genetic condition that may cause serious lung and liver disease. Alpha-1 antitrypsin
(AAT) is produced by the liver, and an Alpha-1 deficiency occurs when there is a lack of the AAT
protein in the blood. The main function of AAT is to protect the lungs from inflammation caused by
infection and inhaled irritants such as tobacco smoke, including second hand smoke. Without
enough antitrypsin in the blood stream, the lungs may become damaged, and breathing may
become difficult. Early diagnosis and avoiding known risk factors (like smoking) can help prevent
Alpha-1 from causing lung disease and liver disease, such as cirrhosis and cancer of the liver. There
are several options for treatment of the lung disease, including replacement of the missing protein,
or liver transplant.
It is estimated that about 1 in every 2,500 Americans have Alpha-1. It has been found in all age and
ethnic groups. People with Alpha-1 may remain healthy throughout their lives and show few
symptoms, if any.
The most common symptoms of Alpha-1 are:
Shortness of breath
Wheezing
Chronic cough and mucus production
Frequent or recurring chest colds
Jaundice
Liver problems
Swelling of the legs
Allergy symptoms year round
The Alpha-1 Foundation supports testing for individuals at risk for the Alpha-1 Antitrypsin Deficiency.
A free and confidential opportunity for testing and research study was developed by the Alpha-1
Foundation and the Medical University of South Carolina. It is called the Alpha-1 Coded Testing
(ACT) Study. The Alpha-1 Research Registry facilitates research and promotes the development of
improved treatments. Since there is no cure at this time, research is crucial. The Registry is a
confidential database of people who have been diagnosed with Alpha-1 as well as people identified
as Alpha-1 Carriers. The Alpha-1 Association Genetic Counseling Center is also located at the
Medical Center of South Carolina. A genetic counselor is available to provide support and
information to patients, caregivers, and health care professionals regarding disease manifestations,
testing options, treatments, and research.
Links of interest:
Alpha-1 Foundation
The test is explained
here
The Alpha-1 Registry
Online brochures
General Information
Alpha-1 Advocacy
Signs and Symptoms
