Genetic Link with Asthma Strongly Suspected National Institutes of Health Issues Revised Recommend

You and your 7-year-old have just returned from your fourth emergency room visit within the past six months. It’s three o'clock in the morning and you are both irritable and exhausted. In an uncharacteristic but certainly understandable moment of self-pity, you think about your son's frequent episodes of wheezing, coughing, tightness in the chest, difficulty breathing . . . And you wonder: "Why did this happen to us? Is there anything I could or should be doing to make living with this condition a little more manageable?"

Asthma, which is a major public health problem, particularly in New York City and other urban areas, affects an estimated 18 million Americans, including more than 5 million children. Characterized by periodic productive cough with episodic wheezing, airway inflammation and bronchospasm, asthma now accounts for some 2 million emergency room visits and 450,000 hospitalizations a year, with the total annual cost of treatment reaching nearly $10 billion.

Alicia Schlesinger, R.N., a school nurse in the city’s public school system, says: "Many unnecessary days of school are missed due to acute asthmatic exacerbations. Asthma is a complex, chronic disease process which can be controlled and managed by adhering to the prescribed medication and treatment regimen on a regular basis, rather than only treating the symptoms when they intensify and become problematic."

Recently, two interesting news bytes have evolved from the world of science and medicine, which could help to foster a better understanding of the etiology of this chronic disorder; such knowledge could help medical practitioners to manage the disease process more effectively.

ADAM 33 gene may be correlated

Late this summer, an article in an issue of Nature Magazine reported that a team of British and American researchers had identified 135 variations of 23 genes, including one dubbed the ADAM33 gene, which appear to be significantly correlated with the development of asthma. The gene may also be associated with hyperactive airways, or bronchial hyper-responsiveness, which causes many of the same respiratory signs and symptoms as asthma. The researchers studied 460 Caucasian families who had at least two children with asthma, finding the presence of these "susceptibility genes", which predispose family members to the development of asthma.

Researchers have long suspected that, along with environmental factors, the development of asthma is strongly influenced by a genetic component. Scientists had previously discovered genes that signaled increased susceptibility to asthma in animals, but until now, no one had been able to identify a specific asthma gene in a large group of related people. Knowing that people with a certain genetic makeup may be more likely to develop asthma may one day provide help in treating or even preventing this disorder, says study co-author Tim Keith, senior director of human genetics at Genome Therapeutics, a biotech firm in Waltham, Mass.

Dr. Dale Umetsu, a Stanford University pediatrician and expert on asthma and other respiratory disorders, believes that a dozen or so genes are likely to cause the disease, and says that ADAM33 appears to be an important player in the genetics of asthma, adding that it's still something of a mystery to researchers.


Recommended Treatments for Children Modified What's less of a mystery now is the best way to prevent and/or treat the signs and symptoms of asthma, thanks to the National Asthma Education and Prevention Program (NAEPP), coordinated by the National Heart, Lung and Blood Institute of the National Institutes of Health, which recently issued an update of selected recommendations to supplement its “Guidelines for the Diagnosis and Management of Asthma”. The update continues to recommend a ‘step-wise’ approach to asthma management, where treatment is adjusted depending on the severity of the disorder. However, specific treatment recommendations have been modified, based on research and clinical trials conducted since the last guidelines were released in 1997.

The updated guidelines report that ongoing use of inhaled corticosteroids improves control of mild or moderate asthma in children more effectively than the use of cromolyn, nedocromil, theophylline, leukotriene receptor antagonists or other long-term asthma control medications alone. The revised recommended treatment for children over 5 is for the use of long-acting inhaled beta-agonist medications, or leukotriene modifiers, or theophylline, in conjunction with titrated doses of corticosteroids inhaled via nebulizer or Measured dose inhaler (MDI). New guidelines recommend two options for treating moderate asthma in children younger than 5: either the addition of long-acting inhaled beta-agonists to a low dose of inhaled steroids, or medium-dose inhaled corticosteroids used alone. The research panel now recommends early initiation of long-term control therapy for infants and young children who are displaying even infrequent signs/symptoms of asthma.

Strong evidence shows that the use of inhaled steroids at recommended doses does not have adverse effects, except for a small risk of delayed growth.

Antibiotics Not Recommended The recent guidelines state that adding antibiotics to standard care does not improve the outcome of treatment for acute exacerbations (worsening) of asthma. The guidelines remain the same as previously — antibiotics are not recommended for the treatment of acute asthma flare-ups, except as needed for co-existing infections.

The guidelines also continue to recommend the use of written asthma action plans and self-management education interventions for adult patients and/or caregivers of young children, since the use of these plans was found to correlate with a decrease in emergency department visits.

Along with these measures, experts recommend that parents of children with asthma help their youngsters remain healthy by reducing or eliminating environmental triggers such as smoke or dust; promoting a healthy lifestyle including proper rest, exercise and nutrition; and working closely with your child's healthcare provider to make sure you understand and follow the treatment plan designed for your youngster.

BARBRA WILLIAMS COSENTINO, R.N., C.S.W., is a psychotherapist in private practice in Forest Hills, N.Y., with a special interest in working with children and families affected by chronic illness. She can be reached at (718) 459-1318.