Pulmonary hemosiderosis in children with Down syndrome: a national experience

Abstract

Background: Pulmonary hemosiderosis is a rare and complex disease in children. A previous study from the French RespiRare® network led to two important findings: 20% of the children presented with both pulmonary hemosiderosis and Down syndrome (DS), and at least one tested autoantibody was found positive in 50%. This study investigates the relationships between pulmonary hemosiderosis and DS.

Methods: Patients younger than 20 years old and followed for pulmonary hemosiderosis were retrieved from the RespiRare® database. Clinical, biological, functional, and radiological findings were collected, and DS and non-DS patients' data were compared.

Results: A total of 34 patients (22 girls and 12 boys) were included, among whom nine (26%) presented with DS. The mean age at diagnosis was 4.1 ± 3.27 years old for non-DS and 2.9 ± 3.45 years old for DS patients. DS patients tended to present a more severe form of the disease with an earlier onset, more dyspnoea at diagnosis, more frequent secondary pulmonary hypertension, and an increased risk of fatal evolution.

Conclusions: DS patients have a higher risk of developing pulmonary hemosiderosis, and the disease seems to be more severe in this population. This could be due to the combination of an abnormal lung capillary bed with fragile vessels, a higher susceptibility to autoimmune lesions, and a higher risk of evolution toward pulmonary hypertension. A better screening for pulmonary hemosiderosis and a better prevention of hypoxia in DS paediatric patients may prevent a severe evolution of the disease.

Keywords: Autoimmunity; Celiac disease; Children; Down syndrome; Interstitial lung disease; Pulmonary hemosiderosis; Pulmonary hypertension; Vasculitis.

Fig. 1

Age at presentation of the 34 included patients. Black bars represent the ages at presentation of the non-DS patients, and white bars represent the ages at presentation of the DS patients

Fig. 2

Lung imaging of two patients in the DS group (patients 1 and 2), and two in the non-DS group (patients 12 and 15). Panels a and b Chest x-ray and thoracic HRCT-scan of patient 1 at diagnosis (8 months of age) show bilateral alveolar opacities with a posterior predominance and diffuse ground glass opacities. Panels c and d Chest x-ray and thoracic HRCT-scan of patient two at 1 month of age show bilateral diffuse ground glass opacities. Panels e and f Chest x-ray and thoracic HRCT-scan of patient 12 at 4.3 years old show bilateral alveolar condensations with a patchy repartition, central and peripheral, and surrounding ground glass opacifications. Panels g and h Chest x-ray and thoracic HRCT-scan of patient 15 at 5 years old show bilateral patchy ground glass opacifications and signs of lung fibrosis with reticulations and sub-pleural cysts

Fig. 3

Number of patients with positive antibodies in each group. The black bars represent the number of non-DS patients with positive antibodies and the white bars represent the number of DS patients with positive antibodies. The % in each bar is the % of patients in each group with positive antibodies. Abbreviations: DS = Down syndrome, ANCA = anti-cytoplasmic antibodies; ANA = antinuclear antibodies; CCP = anti-cyclic citrullinated peptide; PR3 = anti-proteinase 3; MPO = anti-myeloperoxidase; TG = anti-transglutaminase; DS = Down syndrome