Cystic fibrosis survivors over the age of 40 offer clues for care

Doctors always said allergies and asthma were behind Laura Mentch’s repeated lung and sinus infections. Only when she turned 50 did she discover the real culprit — a disease notorious for destroying children’s lungs.

WASHINGTON — Doctors always said allergies and asthma were behind Laura Mentch’s repeated lung and sinus infections. Only when she turned 50 did she discover the real culprit — a disease notorious for destroying children’s lungs.

Mentch is part of the gradual greying of cystic fibrosis: More and more patients are surviving into adulthood, some even to middle age and beyond.

Now, researchers are taking a close look at the first group to make it past age 40 with this incurable genetic disease, as a much-needed guide for patients and doctors on what to expect.

And they’re finding CF is even more complicated than thought. Consider Mentch: The Bozeman, Mont., woman is part of a small but growing subset of patients not diagnosed until adulthood — patients long assumed merely to have a mild version of the disease that, in its classic form, can quickly attack lungs.

Not so, contends Dr. Jerry Nick of National Jewish Health in Denver, home of one of the largest adult CF treatment centres. He studied how more than 3,000 long-term survivors fared, both at his centre and using data from patients included in the Cystic Fibrosis Foundation’s national registry over 15 years. He found that once their disease revs up, those diagnosed as adults can deteriorate as quickly as those diagnosed younger.

“It’s not really mild CF, it’s delayed CF,” says Nick, whose study was published last month in the American Journal of Respiratory and Critical Care Medicine.

If so, his findings may have ramifications for babies as well. How? In recent years, every state has begun screening newborns for cystic fibrosis, so that patients can start life-extending treatment before that first infection ever hits.

But doctors are having trouble determining if a fraction of those babies really will develop CF or not, because they harbour less common genetic mutations than the classic type linked to early, severe disease.

“We’re struggling with this,” says Dr. Bruce Marshall of the Cystic Fibrosis Foundation, which issued guidelines in December recommending such children be closely monitored for signs of disease as they grow. “At this point, we really don’t know exactly what to do with these folks.”