Monday, August 4, 2008

Myth #2: Only Children are Diagnosed with CF

Fact: Although it’s true that most people who have cystic fibrosis are diagnosed before age 2, it’s possible to be diagnosed later in life.

Symptoms that lead to eventual diagnosis in adults may include:

  • Very salty-tasting skin
  • Persistent coughing, at times with phlegm
  • Frequent lung infections, like pneumonia or bronchitis
  • Wheezing or shortness of breath
  • Small, fleshy growths in the nose called nasal polyps
  • History of bronchiectasis

With only 112 Cystic Fibrosis Care centers in operation, the number of doctors who are familiar with cystic fibrosis are few and far between. Even pulmonologists (heart-lung specialists) may not believe that a person with CF could survive into adulthood. Ignorance on the part of medical professionals is what makes the path to adult diagnosis so frustrating and discouraging.

Attempting to diagnose cystic fibrosis based on symptoms alone is unreasonable, as every case of cystic fibrosis is different. Even sweat tests which measure the concentration of salt lost when a suspected CF patient perspires are inconclusive and may give false negatives/positives.

Scientists have identified more than 1,500 mutations of the CF gene. Only a full genetic panel, like that offered by Ambry genetics can confirm or deny whether a person has cystic fibrosis. The Ambry panel tests all the known mutations not just the 24 most common ones.

One study has shown that individuals who are diagnosed later in life (i.e., past the age of 40) are less likely to have the deltaF508 mutation. These patients are also less prone to Pseudomonas Aeruginosa infections. The same study showed that late diagnosis was more common for females than males. Another commonality among adults with late diagnosis (LD) cystic fibrosis was the prevalence of pancreatic sufficiency.


joni said...

Hi lauren,

I was dxd at age 44, i am now 56..

I have Delta F 508 and found out recently through Ambry that my other mutation is 4382 Del A.

I started having symptoms (mostly GI) around 16 y/o.. ALso had a lot of bronchitis, i was a smoker so thought that was why.

i had 4 gi surgeries due to the fact that they didn't know i had c/f..

My sister LInda was dxd the same year as me, she was 50,(she had mostly lung involvement, coughing up blood for some 35 yrs and two lung surgeries. Probably much more that i am not aware of. She died the year we got dxd from breast cancer.

I do not culture psudo.. But lots of other lovely bugs..

Sometimes i feel that my sister and i were cheated w/o the dx in more ways than one. I wish we could have shared and supported ea others c/f ness.

Thank you for the article .. Joni (aka beleache -

Marcia said...

I am 56 and was just diagnosed with CF.I have deltaF508 and my other mutation is not as common.I also have p.aeruginosa.I have had lung and sinus problems my entire life,but fortunately,I am pancreatic sufficient.So now I am immersed into this world of CF,having just had my first tune up and am currently on my second week of home IV's.Lauren,I have really learned a lot about CF through your are a great writer.Hope you are feeling better!!