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Alpha-1 Antitrypsin Deficiency and Caregivers

By  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.

DIAGNOSIS AND RESEARCH

The Alpha-1 Association has made diagnosis and participation in research efforts easy for those interested.  While the majority of Alpha-1 testing by doctors is done when there are problems noted (lung disease without an apparent cause or history), anyone can be tested and be guaranteed of confidential results.
The website www.alphaoneregistry.org not only houses confidential information on those who carry the gene, but those who are living with Alpha-1.  By registering, you begin the first stage in learning your genetic predisposition, and helping in research.  The DNA and Tissue Bank at University of Florida accepts blood and tissue donations to further research links between Alpha-1 and other processes.  You do not have to be diagnosed with Alpha-1 to donate, but you will be helping research efforts.  Contact them toll free at 1-866-284-2708 to see what research can offer you, and vice versa.

CARING FOR THE ALPHA-1

With any lung imbalance, it is important to follow common sense.  Cessation of smoking and staying away from secondhand smoke and other pollutants is primary.  Talk to the doctor about physical exercise instruction from a licensed physical therapist to determine how to build lung capacity without sapping endurance. 

Monitoring allergies and exposure to other allergens is a “given.”  Yet, caregivers and loved ones often ignore subtle allergens such as mild food allergies, soaps and colognes and cleaning solutions that do the job but leave one gasping for air.  Exposure to these allergens may be eliminated within the home, but visits to the doctor, grocery or shopping center are difficult to control.  When encountering these possible irritants, move away quickly to reduce the effect.

If your loved one qualifies for treatment by augmentation therapy (IV infusions of human plasma containing Alpha-1 antitrypsin protein), caregivers may be trained to administer therapy.  Knowing how much you and your loved one are capable of handling at home will make for better therapy.  Proper nursing instruction and supervision are required.  If you cannot envision being able to handle at-home therapy, be frank with staff and continue treatments at a professional center. 
Administering any medications must be done as the doctor directs.  As with any medical decision, if your loved one is diagnosed with Alpha-1, find a doctor who recognizes the significance of diagnosis, regardless of smoking history. 

ONE DIAGNOSIS HELPS MANY

Within your own family, having a member diagnosed with Alpha-1 can assist other family members should problems crop up.  Since diagnosis can be confidential, testing can be done as a family health project.  The goal is to help future generations maintain their health and receive treatment appropriate to their situation.  The Alpha-1 Association has support groups, advocacy efforts and information that bring power to patient and caregiver.

Information can be frightening to some people.  Some worry that if the insurance company is aware, they will be dropped.  Alpha-1 seeks to advocate on behalf of people who may be discriminated against because of genetic conditions.  The more people who supply the organization with information, the greater the chances of understanding this (and other) genetic processes.

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