Abstract P-294: ADOLESCENT WITH EHLERS DANLOS SYNDROME AND ACUTE PULMONARY HEMORRHAGE

Aims & Objectives:

Patients with Ehlers-Danlos syndrome (EDS) have abnormal collagen production or secretion leading to hyperextensibility of the skin, hypermobility of the joints, and increased tissue fragility. Although uncommon, respiratory manifestations of EDS have been described. The typical causes of death in patients with EDS are viscus rupture and arterial hemorrhage. Some deaths have been attributed to pulmonary hemorrhage. We report a case of acute pulmonary hemorrhage as the presenting finding of granulatomatosis with polyangiitis in a child with EDS.

Methods

Case Report

Results

A 14-year-old female with EDS presented with a 2-month history of fever, fatigue, unintentional weight loss, arthralgias, myalgias, and progressive dyspnea. Chest radiography revealed diffuse alveolar opacities and laboratory evaluation revealed anemia and thrombocytopenia. Chest computed tomography (CT) showed pulmonary hemorrhage. Anti-neutrophil cytoplasmic antibodies targeting proteinase 3 were positive for granulomatosis with polyangiitis. She was admitted on high-flow nasal cannula oxygen therapy and given pulse-dose intravenous methylprednisolone. Subsequent improvement in respiratory status was observed; she was treated with rituximab and weaned off oxygen. Patient was discharged home in stable condition on hospital day #5 and remained on oral prednisone, with a 4-week course of rituximab, and was started oral azathioprine.

Figure 1.: AP chest radiograph showing diffuse alveolar opacities.

Figure 2.: Chest CT showing parenchymal opacities, airspace consolidation, and ground glass opacities in the bilateral lower lobes, right middle lobe, and lingula.

Conclusions

To our knowledge this is the first reported case of polyangiitis with granulomatosis presenting with pulmonary hemorrhage in a child with EDS. An increased index of suspicion may improve outcomes.