till what can you speak about

Question

I am 48 years old and know since last August that I suffer from CF, 5T/9T heterozygous and F508del heterozygous.
Before that period, I had according to several pulmonologists, COPD GOLD class IV.
Since 2003 I go to pulmonologists. My FEV1 was 2.36 L (59 %), saturation at rest 94%, 79% at max effort. Also a sweat test has been done because I have a son with CF. The result of this was: Cl 77mmol / l Na 96mmol / l.
in October 2012 my FEV1 was 0.71 l (19 %) and my saturation 87%, 78% after little effort.
I've lost 8KG I the last 3 years.
Since August I noticed that my stool was greasy. (so this explains the weight loss).
I am very short of breath for the moment. I suffer from a lot of very sticky mucus in the lungs (my lungs are filled with sticky mucus, therefore a much too low FEV1). I have a hernia, rectumprolaps and regularly torn muscles in the chest because of the caughing.

I’ve been to the pulmonologist on October 1st. The saturation at rest was 77%, he said if I weren’t a “normal person”, I should be hospitalized immediately.
I also suffer from clubbing since I was 3 years old.

According to medical information on mutations I suffer from a "mild form of CF”.
What does "mild" mean in this case ? (I think the doctors will therefore assume that the symptoms are less severe than those who suffer from "classic" CF) .

Answer

Dear questioner,

CF is a disease with a very variable expression as to age of onset of symptoms as well as the number and severity of organs involved. Also the severity of lung disease varies between patients.

Since the discovery of the CFTR gene, it has become clear that many different errors in this gene can cause the disease.

Besides the classic clinical symptoms (disease in the lungs and the digestive system from early age on, a clearly abnormal sweat test and male infertility), there are also patients with 2 mutations in the CFTR gene and a much milder disease or disease limited to one organ (f.e. only male sterility). In such a case of 'mild CF' there is even discussion among physicians whether the term CF should be used or not. In such cases terms as CFTR-related disease or atypical CF are also used.

However the variability among patients is large:
It means that patients with one ”mild” mutation can have a severe degradation of the lungs and the other way round: patients with “severe mutations” can have a limited degradation of the lungs. This means that not only the type of mutation but also other genetic and environmental factors can determine de severity of the illness (such as intensity of the treatment, age at diagnosis, smoking, age,…). One also has to take into account the actual age of the patient.

Porf. K De Boeck

23.12.2013