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14 y.o. with low dlco and shortness of breath
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14 y.o. with low dlco and shortness of breath

I noticed my 14 year old daughter getting short of breath about 6 months ago and thought she just needed more exercise although her BMI is 18% and she does go out and play a lot.  However, the breathing kept getting worse so I took her to the doctor.  They ordered a PFT which was done January 9th.  The results from that are:

1.  There is a proportionate decrease in FVC and FEV1 with a preserved FEV1/FVC ratio consistent with a Restrictive Lung Defect.      
2.  Reduced total lung capacity measured by Plethysmography suggesting a mild restrictive pattern.    
3.  Elevated residual volume suggests Air Trapping.    
4.  DLCO is Moderately Reduced.

Her adjusted DLCO value was 54% of the predicted value, her TLC was 76%, the FVC was 79%,  and the FEV1 was 81%.  She had a CT scan of her lungs on Tuesday night and the results are normal.  She feels very tight in her chest, almost like someone is sitting on her, but she does not complain of arm or finger pain/tingling and asthma has been completely ruled out. Her Pulmonologist has diagnosed her with a Restrictive Lung Defect, but I don't think that would cause her DLCO to be so low.  Could this be a heart problem?
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The report of a normal CT scan is somewhat reassuring but your daughter’s seemingly abnormal pulmonary functions (PFTs) are worrisome.  The first step should be to confirm validity of the results.  There is a wide range of “normality” of pulmonary function and some overlap between low normal and abnormally low.  However, the reduced DLCO, if accurate, is decidedly abnormal, especially if corrected for alveolar volume.  In the context of your daughter’s symptoms, however, the apparent “restrictive” findings and, especially the DLCO are likely to be abnormal and reflective of some type of diffuse lung disease.  The normal CT scan, depending on the degree of image resolution, does not exclude the possibility of interstitial lung disease and it may be necessary to obtain a video assisted thoracic surgery (VATS) lung biopsy to establish a diagnosis.  Assuming the pulmonologist has concluded that there is a physical, pathophysiological basis for your daughter’s symptoms, an aggressive approach to diagnosis is warranted.

Before that, however, a couple of diagnostic possibilities should be considered including, but not limited to, recurrent pulmonary emboli with or without pulmonary hypertension, a variety of diffuse lung diseases some interstitial and some not including endobronchial sarcoidosis and, although primarily a disease of middle-aged women, a condition called lymphangioleiomyomatosis (LAM).  You may want to suggest that your daughter’s pulmonologist consider telephone consultation with Kevin Brown, MD at the institution, National Jewish Health in Denver, Colorado.

Do not hesitate to seek a second opinion at a national medical center such as National Jewish Health or the Mayo Clinic.
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