Our Maine Street's Aroostook Issue 14 : Fall 2012 | Page 70

Alpha-1 Antitrypsin Deficiency
by Professional Home Nursing

Alpha–1 Antitrypsin deficiency means you have a
low level of a protein called Alpha–1 Antitrypsin (AAT). A
deficiency could lead to lung and/or liver disease. Alpha–1
Antitrypsin protein builds up in the liver and is unable to
be released into the blood. This causes low levels of AAT in
the blood, which is then unable to protect the lungs from
injury. In turn this could cause emphysema to occur leading
to chronic obstructive pulmonary disease (COPD).

Approximately 1 in 2,500 people in the United
States have Alpha–1, but as many as 90 percent are
undiagnosed. Alpha–1 Antitrypsin deficiency is hereditary
and is one of the most common metabolic disorders, which
can lead to serious liver disease in neonates, young children
and some adults, or serious lung disease in adults. Alpha–1
is passed on from generation to generation. In order to be
classified as having Alpha–1, a person must inherit two
abnormal AAT genes, one from each parent. A person with
one abnormal AAT gene and one normal AAT gene is called
“carries.” Diagnosing Alpha–1 can be done with a simple
blood test.
Who should be tested for Alpha–1 Antitrypsin deficiency?

It is recommended by American Thoracic Society
and European Respiratory Society that the following
diagnoses be tested for Alpha–1:
Chronic obstructive pulmonary disease, early onset of
emphysema (diagnosed at age 45 or earlier), liver diseases
with unknown causes, bronchiectasis (in adults), asthma
that does not respond to traditional treatment, emphysema
with a prominent worsening disease at the bases of the
lungs, recurrent pneumonia or bronchitis, unexplained
panniculitis (skin disorder), family history of Alpha–1,
family history of emphysema, bronchiectasis, liver disease
or panniculitis, chronic asthma in adolescents and adults.
What are the symptoms?

Unfortunately Alpha–1 is often not discovered until
there has been significant tissue damage or until the p ]Y[