He knows on average people with Alpha-1 sufferers see five different doctors over seven years before they finally learn they have the condition. He knows this because in many cases he has been the physician charged with bearing the bad news.

"I remember telling a woman she had Alpha-1 and emphysema, not asthma. She had a baby in her lap, a toddler at her side and tearfully asked, 'What can I do to make sure I'll live to see my children graduate high school?'" recalled Sandhaus, director of the Alpha-1 Program at National Jewish Medical and Research Center in Denver. "That woman didn't see her children graduate. She died while waiting for a lung transplant."

Alpha-1, among the most common serious hereditary disorders, is characterized by the low levels in the blood of the alpha-1 antitrypsin (AAT) protein. That protein blocks damage in the lungs from neutrophil elastase enzymes. The result is COPD often at an extremely young age. Today, experts estimate between 16 and 30 million people have at least one abnormal gene from Alpha-1. More than 90 percent of severely affected individuals are unaware they do have it.

Sandhaus said his experiences with patients who have been misdiagnosed for years motivated him to get the word out. "Maybe [the woman] could have been put on a medication that would have halted her condition's progression in its tracks," he explained. All it takes is a simple blood test to diagnose the disorder. And even though the physician has been working with Alpha-1 since the 1970s, much labor remains to be done to spread the message.

"Alpha-1 is still viewed by routine physicians as an extremely rare disease they learned about in medical school, expecting that they'll never see. The facts are different," he said. "It's more common than they realize. They probably have several Alpha-1 patients (Alphas) they haven't identified."

REACHING PEOPLE

Organizations like the Alpha-1 Foundation are recognizing that respiratory therapists might be the key to recognizing Alphas. "We have any number of individuals who were diagnosed because an RT during a rehab program noted that a patient with the diagnosis of asthma wasn't acting like an asthmatic," Sandhaus said. "We have been getting a much better response from RTs than from primary care physicians."

Experts are currently pushing for a change toward targeted detection programs rather than general screening to find Alphas. Detection programs focus on screening populations who already have a diagnosed disease like COPD and asthma. Odds favor a greater number of those patients are Alphas, Sandhaus explained. "Then you wouldn't be giving them a new disease, you would be helping them treat it better."

Finally, the Alpha-1 Foundation will soon begin taking its message to the people—the patients. The organization plans to have billboards and posters that prompt patients to ask themselves "Are you 1?" The hope is that once informed, patients will ask their doctors whether they have been tested.

NOT SO SIMPLE

Even though diagnosis can be made with a simple blood test, a positive diagnosis can be vexing for people who carry life insurance and health insurance. Alphas are subject to genetic discrimination by employers and insurance carriers. And since Alpha-1 is considered a pre-existing condition, an Alpha may be refused coverage when obtaining or switching insurance. "Alphas have been a growing concern in the Alpha-1 community," said Sandhaus. "It has lead the way in raising awareness of genetic discrimination and trying to find legal ways around it," he said.

Perhaps the thorniest issue of all centers on the reality that just because a person has Alpha-1, that factor alone does not mean the individual will ever become ill. But because of the inherent problems, Sandhaus makes sure patients realize that making the diagnosis could create problems.

"But where do you stop with that?" he asked. "Do you say, 'I'm not going to check a blood sugar because a patient might have diabetes and not be able to obtain insurance coverage?' It gets to be a problem."

Mark Brantly, MD, professor of Molecular Genetics and Microbiology at the University of Florida, said no one is genetically perfect. "Every human being has five to 15 lethal genes which will be responsible for their death," he said in his talk at the AARC Conference in October. "Regardless of whether you have Alpha-1 or don't have Alpha-1, the bottom line is we all have these types of genes."

The good news is insurance carriers are generally covering the cost for providing the few existing treatments available. The chief one is augmentation therapy using Prolastin^® from Bayer Biological Products. Prolastin boosts AAT protein levels in the blood and slows the rate of lung function loss. Even with the drug's high cost, it has proven its worth. "We have studies that show it is cost effective to take the therapy in terms of preventing lung tissue destruction and reducing health care utilization," Sandhaus said.

Another Alpha-1 proteinase inhibitor, Aralast™ from Alpha Therapeutic and Baxter Healthcare, should be available on the market in the near future. Since augmentation drugs have been in short supply, a new player on the field will benefit the Alphas, noted Edward J. Campbell, MD, professor of Medicine at the University of Utah. "Fewer than 10 percent of the estimated 100,000 Americans with Alpha-1 are accurately diagnosed, and even fewer are receiving augmentation therapy," he said. "The availability of this drug will allow more patients to be treated."

The most important factors in retarding disease progression in individuals with Alpha-1 Antitrypsin Deficiency (Alphas) are to eliminate all tobacco smoke and to reduce the incidence of lung infection. It is important to note that Prolastin (alpha-1 proteinase inhibitor therapy ) is the only drug currently available on the U.S. market for use as an adjunctive therapy to managing the genetic disorder.

Due to a limited supply of the drug and its highly prohibitive cost, patients should strongly consider lifestyle changes to boost their physician's plan of care.

The following preventative recommendations have been listed in order of importance and practicality. They are meant to be used as guidelines, and evaluated on an Alpha-by-Alpha basis before implementation.

Personal Hygiene:

• Follow handwashing guidelines to avoid infections;

• Avoid airborne irritants like dust, all smoke, paint fumes and any odorous cleaning products;

• Consider using a face mask when in the presence of crowds or ill people; and

• Obtain all needed immunizations.

Nutrition:

• Do not overdo grain products, sugars and starches which can create excess CO₂;

• Ensure adequate protein and fats to balance diet;

• Eat a number of spaced, smaller meals rather than three large ones;

• Add vitamin supplements and natural additives to help the digestive process and improve energy; and

• Consume sufficient calories to meet energy demands.

Lifestyle Changes:

• Stop smoking, stop smoking, stop smoking!

• Maintain or gradually increase current exercise plan but do not start a sudden strenuous program;

• Seek ways to manage stress (i.e., Yoga, stopping to smell the roses or calling a friend every day);

• Ensure adequate quality sleep (at least six to eight hours per night); and

• Rigorously follow prescribed treatment plans.

For more information about Alpha-1, visit the Alpha-1 Foundation's Web site at www.alphaone.org or the Alpha-1 Association at www.alpha1.org.

To obtain a free blood testing kit, call the Alpha-1 Foundation toll-free at 877-228-7321.

You can reach Shawn Proctor at sproctor@merion.com.