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Alpha-1 Antitrypsin Deficiency and Caregivers

By Cheryl Ellis, Staff Writer

(Page 1 of 3)

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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