Purpose The pulmonary complications of sickle cell disease (SCD) are a leading cause of morbidity and mortality (MacLean et al.

Wiskott-Aldrich syndrome (WAS) is a rare X-linked primary immunodeficiency characterized by an increased incidence of autoimmunity, malignancy, microthrombocytes with thrombocytopenia, eczema, and recurrent infections. In this case report, we present a novel mutation, hemizygous for c.1125_1129delTGGAC mutation in the WAS gene, and a unique clinical presentation. Our patient was initially diagnosed with a milk protein allergy after presenting with a lower gastrointestinal bleed, leukopenia, and thrombocytopenia with normal platelet volume. However, signs of vasculitis and detection of microthrombocytes required additional testing and consideration of WAS. This case report illustrates the importance of retaining a high index of clinical suspicion despite normal platelet volume, as well as adding to the growing number of known mutations associated with WAS.

Inhaled corticosteroids (ICS) and β2-agonists are the primary pharmacotherapies of asthma management. However, suboptimal medication compliance is common in asthmatics and is associated with increased morbidity. We hypothesized that exhaled breath measurements of the aerosol used in the inhaled medications might prove useful as surrogate marker for asthma medication compliance. To explore this, ten healthy controls were recruited and randomly assigned to inhaled corticosteroids (Flovent HFA) or short acting bronchodilators (Proventil HFA). Both inhalers contain HFA-134a as aerosol propellant. Exhaled breath sampling and pulmonary function tests were performed prior to the inhaler medication dispersion, immediately after inhalation, then at 2, 4, 6, 8, 24, and 48 hours post administration. At baseline, mean (SD) levels of HFA-134a in the breath were 252 (156) pptv. Immediately after inhalation, HFA-134a breath levels increased to 300 X106 pptv and were still well above ambient levels 24 hours post administration. The calculated ratio of forced expiratory volume in 1 s over forced vital capacity (FEV1/FVC) did not change over time following inhaler administration. This study demonstrates, for the first time, that breath HFA-134a levels can be used to assess inhaler medication compliance. It may also be used to evaluate how effectively the medicine is delivered.

Background: Sickle cell disease is a group of genetic disorders characterized by hemoglobin S. The pulmonary complications remain the leading cause of morbidity and mortality in SCD. With chronic pulmonary dysfunction, the age of onset and the progression of lung disease remain unclear. Objective: To describe and define the progression of lung disease and to identify potential pulmonary function variables as prognostic indicators of disease progression. Methods: A retrospective, chart review of 95 patients ages 5-25 years. All patients underwent evaluation by spirometry in conjunction with body plethysmography. Results: FEV1 did not correlate with RV, but a correlation between FEV1 and TLC resulted with a p-value<0.0001. Additionally a significant correlation between SVC and FVC with a coefficient of 0.73 and p-value of <0.0001 was recorded. An initial decline in FEV1 seen over the initial 3 years was not predictive of a further decline in FEV1. Conclusions: Children with SCD have a steady decline in lung function. FEV1 strongly correlates with lung volume parameters and may serve as a marker to determine the rate of decline. This abstract is funded by: None Am J Respir Crit Care Med 185;2012:A6129 Internet address: www.atsjournals.org Online Abstracts Issue