FYI from the NHLBI Index

May 2004: Vol. 5, Issue 1
Constituents' Corner

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Rare Lung Diseases Consortium Meets

The first annual meeting of the Rare Lung Diseases Consortium (RLDC) was held in Cincinnati, Ohio, March 26-28, 2004. The National Center for Research Resources/NIH Rare Lung Diseases Consortium is a Cincinnati-based international network of clinical centers that are focused on clinical research in rare pulmonary diseases, including lymphangioleiomyomatosis (LAM), alpha one antitrypsin deficiency (AATD), pulmonary alveolar proteinosis (PAP), and pediatric interstitial lung disease (pILD).

The meeting was modeled after prior LAM conferences, and included nearly 400 clinicians, scientists, patients, and NIH staff. Like "LAMposium," a unique and powerful aspect of the RLDC conference was the inspiration and synergy that resulted from the interactions among the scientific participants and the patients. Deliberate efforts were made to attract investigators from diverse disciplines, to introduce novel thinking, and to set new research directions. Dr. Betsy Nabel's address to the patients on "The Value of Patient Advocacy in NHLBI-sponsored Translational Research" was a highlight of the meeting.

The pathogenesis of autoimmune lung disease was one theme that emerged as a focus for next year's Cincinnati RLDC meeting scheduled for April 8-10, 2005. The NHLBI and the Office of Rare Diseases supported this conference through the R13 mechanism with awards to Drs. Frank McCormack for LAM, Bruce Trapnell for PAP, and Robin Deterding for pILD.

Article contributed by: Drs. Frank McCormack and Bruce Trapnell, University of Cincinnati.

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Educational Series to Inform Patients about the Fourth Most Common Cause of Death in the United States

Educating the patient community about a major national health problem that accounts for 8 million office visits, costs over $32 billion dollars in medical expenditures, and is the fourth leading cause of death in the United States and advising this same community on the most efficacious treatments and prevention strategies is the objective of a new series of all-day seminars organized by the Alpha-1 Foundation: The 2004 COPD and Alpha-1 Education Days Series. Other co-sponsors of the series include the Alpha-1 Association, the National Emphysema/COPD Association, and the NHLBI COPD Clinical Research Network (CRN).

Chronic obstructive pulmonary disease (COPD) is a major public health problem that affects more than 16 million Americans. COPD is an umbrella term used to describe airflow obstruction associated with emphysema and chronic bronchitis. Alpha-1 antitrypsin deficiency (Alpha-1) is one of the most common hereditary disorders in the world and can result in life-threatening lung disease in adults and liver disease in children and adults. An estimated 100,000 Americans have the deficiency, yet less than 10 percent have been diagnosed. As many as 25 million people in the United States could carry a single deficient gene that causes Alpha1 and may pass the gene on to their children.

So what's the connection between COPD and Alpha-1? "Alpha-1 is a strong risk factor for COPD," states David Mannino, M.D., Medical Epidemiologist at the National Center for Environmental Health, Centers for Disease Control and Prevention. "I firmly believe a high percentage of COPD is related to genetics, unfortunately we only know the specific genetic cause of a small percentage." Approximately three percent of people with COPD may have Alpha-1.

"When I learned the Alpha-1 Education Days series was going to be expanded to include COPD, I was pleased with the aims and thought it was important that the NHLBI COPD CRN was offered the opportunity to participate," stated James Kiley, Ph.D., Director, Division of Lung Diseases, NHLBI. The 2004 COPD and Alpha-1 Education Days Series incorporates the successful Alpha-1 Education Days and includes outreach to the COPD community offering educational programming to individuals affected by Alpha-1 and COPD throughout the country. This community-based effort increases general awareness by including a broader segment of the affected population. "There is a tremendous need for greater public awareness about COPD. In recognition of this need, the NHLBI is developing a COPD education program to reach patients and clinicians," Dr. Kiley added.

In 1998, a task force led by representatives from the American Thoracic Society (ATS) and the European Respiratory Society (ERS) began a systematic review of the diagnosis and management of individuals with Alpha-1. The result of their 5-year study established new guidelines for physicians. Among its most significant recommendations is diagnostic genetic testing for Alpha-1 for all adults with emphysema, COPD, irreversible asthma, or unexplained liver disease.

"The guidelines establish a new standard for the detection and treatment of Alpha-1 because this genetic disorder is often going undiagnosed or misdiagnosed," said John W. Walsh, President and CEO, Alpha-1 Foundation. The expanded education series has come about, in large part, by the announcement of the ATS/ERS consensus document.

Article contributed by: Ms. Silvana Piñeiro, Alpha-1 Foundation.


The NHLBI is currently planning a workshop to formulate strategies for a COPD education program. It will be held in the fall 2004 and representatives from COPD-related PIOs will be invited.

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