Patients With Down Syndrome Have Higher Risk of Pulmonary Hemosiderosis

Pulmonary hemosiderosis (PH) is a rare, chronic lung disease characterized by hemoptysis, iron deficiency anemia, and alveolar and/or interstitial opacities on lung imaging. Little about the etiology and pathophysiology of the disease is known, but PH typically involves periods of remission and relapse. New research that investigated the relationships between PH and Down syndrome (DS), and found that patients with DS have a higher risk of developing PH.

Pulmonary hemosiderosis (PH) is a rare, chronic lung disease characterized by hemoptysis, iron deficiency anemia, and alveolar and/or interstitial opacities on lung imaging. Little about the etiology and pathophysiology of the disease is known, but PH typically involves periods of remission and relapse. New research that investigated the relationships between PH and Down syndrome (DS), and found that patients with DS have a higher risk of developing PH.

The study, published in the Orphanet Journal of Rare Diseases, used the RespiRare database to collect clinical, biological, functional, and radiological data of patients younger than 20 years old and followed these patients for PH. The data of the patients with PH patients and no DS were compared to the patients with both diagnoses.

Of the 34 patients who participated in the study, 26% had DS. Patients with DS tended to have a more severe form of PD, had an earlier onset, more dyspnea at diagnosis, more frequent secondary pulmonary hypertension, and an increased risk of fatal evolution, according to the results. Additionally, the mean age at diagnosis was 4.1 (±3.27) years for those without DS and 2.9 (±3.45) years for patients with DS.

“Although hemoptysis is a classic sign of the disease, it was present in fewer than half of the patients, whereas dyspnea was the most frequent respiratory symptom,” the authors wrote. “DS patients seemed to present a more severe form of the disease with an earlier onset, more dyspnea at diagnosis, more secondary [pulmonary arterial hypertension, PAH] and a major risk of fatal evolution.”

Because this study reveals a higher risk of severe PH in patients with DS, and because alveolar bleeding symptoms may be inconspicuous, it may be useful to perform a chest X-ray in all patients with DS who have chronic, unexplained anemia or chronic, unexplained dyspnea. However, currently, the only hypotheses the authors propose concerning the association between DS and PH is an increased risk of PAH.

The authors call for a better screening for PH and a better prevention of hypoxia for pediatric patients with DS in order to prevent a more severe evolution of the disease.

Reference

Alimi A, Taytard J, Taam RA, et al. Pulmonary hemosiderosis in children with Down syndrome: a national experience. 2018;13(60). doi: 10.1186/s13023-018-0806-6.