They came from the land of ice and snow, carrying the Hammer of the Gods, and a genetic freckle, alpha-₁ antitrypsin (AAT) deficiency.

Associated with Viking emigration to England, Scotland, and Northern Europe, AAT deficiency's ethnic history became even more diverse as new areas of the world were colonized. Five hundred years before Columbus discovered America, Viking warriors traded crafts and genes with native peoples. Cultural asymmetry in melting-pot communities created mixed-race populations carrying varied forms of the AAT genetic deficiency.

The alleles for AAT deficiency combine in various duos, creating the potential for severe lung, liver, or skin disease to develop. More than 100 variations of the gene exist, and it can be found in nearly every ethnic population, but only a fraction of the patients with the disease are diagnosed.

"It's prevalent out there," said H. Ari Jaffe, MD, who has been seeing patients with AAT deficiency for 20 years. "We aren't making the diagnoses."

Dr. Jaffe, an associate professor at the University of Illinois, Chicago Medical Center's section of pulmonary and critical care/sleep medicine, encourages allied health personnel to bring more patients to the attention of physicians. "The nurse practitioner, the respiratory therapist, the pulmonary function tech, anyone who comes across patients who fit the criteria can give doctors a heads up."

Physicians can benefit from allied health staff filling in the blanks of a medical history. The RT or nurse who has a few extra minutes with a patient may be given subtle cues that hint toward necessary AAT deficiency testing. Phrases like, "My mother always had bad lungs and never smoked a day," to "My grandchild has asthma, but the medication doesn't work 100 percent," can lead the insightful practitioner to question whether AAT deficiency may be a factor to address.

Testing is widely available these days through doctor's offices, the Alpha One Research Registry, as well as pharmaceutical manufacturers that provide doctors with information and testing supplies gratis.

Today, Viking heritage is carried on in the genes of individuals whose current ancestry may not readily appear to be of that origin. Scotsmen made their way to Hispaniola (Haiti) in world history, and today, those descendants flux toward Miami. A similar AAT deficiency mutation likely arose in the Iberian Peninsula and is today often found in individuals of Hispanic descent.

Dennis O'Leary, DO, of Internal Medicine Associates treats a wide variety of ethnic populations in South Florida. Rather than relying upon a set of genetic factors, patients are screened by medical history and pulmonary function study.

"Anyone who sets off the suspicion of being positive gets tested," he said.

The usual suspects include anyone who exhibits abnormal lung function or pathology in absence of smoking history or other factors that create lung disease such as environmental/work pathogens.

Dr. Jaffe adds, as testing costs decline, the medical community could well move toward testing all individuals once per lifetime, considering we're more mixed as a gene pool than before. However, the potential for genetic discrimination still persists as bills to address this have in the past languished in Congress.

Some patients avoid or decline testing because, once tested, they fear being branded as uninsurable. Drs. O'Leary and Jaffe have encountered patients willing to pay for testing out of pocket, so long as the results are kept confidential

The Alpha-1 Association is one of several groups that seek to educate and change the way individuals are treated by society, employers, and insurers. "I've worked with a number of these groups, and they are incredible," Dr. Jaffe said. He emphasizes that his experience with the Alpha-1 Association and other such groups proves that patients are their own best advocates.

For more on current and future therapies for AAT deficiency, read our January/February Drug Data column.

Cheryl Ellis, RPFT, CRTT, is a freelance writer based in Florida.