ARTICLES / General /
Alpha-1 Antitrypsin Deficiency and Caregivers /
Other ArticlesBy Cheryl Ellis, Staff Writer
With a whopper of a name, Alpha-1 was once
nicknamed “The Viking Disease” because it was
prevalent in geographic areas where the Vikings
traveled. Alpha-1 is a protein that is
manufactured in the liver, and balances the
enzyme that helps with keeping the lungs
“clean.” The deficiency can result in the
enzyme attacking the lungs.
Because this deficiency is genetic, it is passed
on through generations. Most people have
normal genes. Others have one normal gene,
and one with a defect. When it comes to
genes, there are variations that contribute to
abnormalities being passed on.
In general, doctors test for Alpha-1 when they
see lung disease and no obvious cause. The
smoker or secondhand smoker may be diagnosed
with one condition (bronchitis, for example),
with the “clues” pointing toward smoking.
The Alpha-1 test will differentiate whether the
patient was predisposed to lung problems because
of a genetic, rather than environmental or
behavioral cause.
Individuals with Alpha-1 are susceptible to lung
infections, regardless of age. The young
person with Alpha-1 may be diagnosed with
asthma, and treated with medications that don’t
correct the problem sufficiently.
Knowing the Alpha-1 status helps caregivers and
loved ones understand the limitations of certain
treatments. It also helps the physician
properly guide the course of treatment, sending
the person to the appropriate specialist.
The liver is another organ Alpha-1 can attack.
Individuals may be diagnosed with cirrhosis of
the liver, and lifestyle activities be branded
the cause. Even infants with Alpha-1 can
have liver damage, and while early intervention
helps with management, liver transplantation is
the only “cure.”
Lungs and liver are not the only organs Alpha-1
can affect. Panniculitis is inflammation
of the fatty tissue under the skin. The
skin is the largest organ in the body, although
it is not thought of as an organ by many without
medical training (or good trivia skills).
Since more than one organ can be affected,
doctors and Alpha-1 patients and caregivers
refer to the primary organ affected when
histories are given.
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