Abstract Case Presentation A 22-year old woman with a background of trisomy 21 and common variable immune deficiency (CVID) was admitted for investigation of deranged liver function tests. She was a lifelong non-smoker with no significant exposures. Medications included human normal immunoglobulin replacement. Oxygen saturations were noted to be 85- 90% breathing room air, with other vital signs within normal limits. She denied dyspnoea or associated respiratory symptoms. Physical examination revealed bibasal crepitation’s and palpable hepatosplenomegaly. Bloods showed normal inflammatory markers with platelets 22,creatinine 122,eGFR 52, ALP 636, ALT 59, GGT 175, AST 58, Bilirubin 7 and negative HIV antibody.Chest radiograph demonstrated no abnormalities. Echocardiogram was unremarkable. CT thorax revealed bibasal interlobular septal thickening with basal predominant ground glass opacities and bronchial wall thickening. Arterial blood gas (ABG) showed pO 2 7.6kPa with pH, pCO2 and bicarbonate within normal limits breathing room air. A bronchoscopy with bronchoalveolar lavage was limited by intraprocedural hypoxemia. Bacterial and fungal cultures were negative, PJP PCR was negative, extended viral panel was negative. She was transferred to the intensive care unit post procedure due to refractory hypoxemia. Repeat CT thorax showed patchy bibasal inflammatory changes, increased from prior. She was treated for aspiration pneumonia with broad spectrum antibiotics but failed to improve. A bubble transesophageal echocardiogram was performed which was normal, with no shunt.Prednisolone was initiated at a dose of 1mg/kg for treatment of presumed GLILD while antibiotics were continued. She improved with these measures and was discharged 3 weeks later with ABG showing pO 2 9.4 kPa breathing room air. Of note liver enzymes, platelets and renal profile improved with this treatment reflecting the multisystem nature of her disorder.She was maintained on prednisone 10mg daily until follow up. Discussion CVID is associated with various pulmonary complications with GLILD being the most common ILD (1). Typical imaging findings of GLILD include peribronchovascular lower lobe predominant pulmonary nodules, ground-glass opacities, consolidation, and interlobular septal thickening in addition to lymphadenopathy and splenomegaly (2). Ideally biopsy and MDT discussion is recommended for diagnosis with key histopathologic features being the presence of granulomas associated with all forms of pulmonary lymphoid hyperplasia (1).Biopsy was not performed in our patient due to hypoxemia. Treatment is first focused on immunoglobulin replacement therapy optimisation (2). Corticosteroids are recommended in symptomatic patients as first line for remission induction (2). Close multidisciplinary followup with is recommended longitudinally to achieve disease stability (1). This abstract is funded by: None
Mccarthy et al. (Fri,) studied this question.