14 y.o. 54% DLCO w/ mild restrictive lung defect

[LisaSD]

My daughter started having some breathing problems six months ago and things have gotten progressivley worse.  She went for a PFT on Jan. 9, 09 and the results show a moderatly reduced DLCO (54%), a mild restrictive pattern (79%) for lung capacity, decreased FVC and FEV1, but has a preserved FEV1/fvc ratio. There is also an elevated residual volume suggesting air trapping.  She is going for a CT on Tuesday, but her lung xray and EKG were both normal.  She gets winded with even mild excersize and has a bmi of 18%.  She eats well, but we are having a hard time with maintaining her weight.  She also has very loose joints and mild osteopenia.  Can anyone offer any sugguestons or ideas as to what might be wrong?

[Batman3578]

The geneticist probably isn't going to answer any issues concerned with the abnormal PFT's. Even if she has Marfan's, which is extremely doubtful, it wouldn't explain the low DLCO, unles your daughter already has significiant pulmonary hypertension (Right Heart Failure). If her CXR and EKG are normal that is less likely. My differential diagnoses would include a vasculitits such as systemic lupus, chronic multiple pulmonary embolism, some mild variant of cystic fibrosis, or alpha-1 antitypsin deficiency.

[Sunny602]

That makes sense....Marfan's affects quite a few organs and joints. I hope that the visit with the geneticist will give you some sort of answers as to why she has abnormalities in her DLCO. Again, I will keep you both in my thoughts.
Sunny

[LisaSD]

Thank you so much for your concern!  They did not do contrast with the CT.  I also spoke with the Orthopedic and Pulmonary docs and neither feel like the scoliosis is causing problems.  The Pulmonologist is having her evaluated for Marfan Syndrome.  She does not have the height problems, but her wing span is 3 in. longer than she is tall and she has joint problems along with eye problems.  But if it is Marfan, there is an 80% chance of a heart issue.  We see the Genetic doc on Feb. 18th.

[Sunny602]

I know that scoliosis can cause restrictive lung disease, that might explain the restriction in her PFT's. As far as a low diffusion, I am not sure. I am not a doctor, just a former RN. Did they do the CT scan with contrast by any chance? I wonder if there are any defects that is preventing good air exchange that would be picked up better with contrast.
Keeping you both in my thoughts,
Sunny

[LisaSD]

The CT came back with normal findings.  The only thing noted was her 23 degree Thoracic Scoliosis. Any ideas on what could cause the low dlco if the lungs are normal?

[Sunny602]

I think that a CT scan is a good idea, hopefully that test will shed some light on what could be causing your daughter's respiratory problems. Other than that, I will be keeping both your daughter in my thoughts.
Sunny