Idiopathic pulmonary haemosiderosis in paediatric patients: how to make an early diagnosis

Abstract

BackgroundIdiopathic pulmonary haemosiderosis (IPH) is a rare but potentially lethal condition in paediatric patients. This condition is considered an immune-mediated disorder, but its pathogenesis is still unknown. Idiopathic pulmonary haemosiderosis is characterized by the classical triad of haemoptysis, iron-deficiency anaemia, and diffuse parenchymal consolidation on chest radiology. Unfortunately, this triad of signs is not frequent in children at the onset of this disease, resulting in a delay in diagnosis and a negative outcome.Case presentationThis case report describes a 4-year-old girl who was admitted for an acute episode of lower respiratory tract infection associated with severe dyspnoea, polypnoea, and severe anaemia (haemoglobin levels, 5.9 g/dL). She had a history of previous similar episodes, with anaemia treated unsuccessfully with iron supplementation and managed through repeated blood transfusions in the acute phase. She did not experience haemoptysis. A computed tomography (CT) scan of the thorax showed ground-glass opacity suggestive of pulmonary haemorrhage. After other causes of intra-alveolar haemorrhage were excluded, IPH was confirmed by the presence of siderophages in bronchoalveolar lavage. Immunosuppressive corticosteroid treatment was immediately started with a good clinical response.ConclusionThis case highlights the fact that IPH should be suspected in children with recurrent lower respiratory tract infections who have a history of iron-deficiency anaemia who shows no signs of improvement with iron supplementation and may require repeated blood transfusions. The absence of haemoptysis does not exclude the diagnosis of IPH in children. An early and prompt diagnosis is recommended in order to start adequate immunosuppressive treatment.

Fatal case of Hajdu–Cheney syndrome with idiopathic pulmonary hemosiderosis

“…To the best of our knowledge, however, its association with IPH has not been reported so far. In contrast, IPH is rarely seen in children . Thus, we think that the chance association of HCS and IPH in the present case is highly unlikely.…”

Successful Liposteroid Therapy for a Recurrent Idiopathic Pulmonary Hemosiderosis with Down Syndrome

“…However, its diagnosis may be difficult and is usually delayed due to absence of classical triad (hemoptysis, iron deficiency anemia and diffuse infiltrates on chest X-ray), insidious onset, lack of awareness about the disorder, and the variable clinical courses [2,10]. ere is a long delay (4 months-10 years) between onset of the symptoms and diagnosis [2,5,6,10]. Especially, in young children, hemoptysis is not common as the first symptom of IPH, occurred in about 50% of patients [10,16], who swallow hemorrhage sputum.…”

“…Corticosteroids are suggested as the first line treatment for acute episodes of alveolar bleeding. In many case reports, corticosteroids were initiated with rapid improvement in clinical course [4,6,18]. On the other hand, their effect on the chronic phase is unclear and their effects on the prognosis remain still controversial.…”

“…e gold standard for IPH diagnosis is lung biopsy, but this method is challenging due to its invasive nature and potential complications, especially in young children [2,5]. Other diagnostic methods can be conducted for confirmation of hemosiderin-laden macrophages (siderophages) by bronchoalveolar lavage, sputum, or gastric lavage analysis [5][6][7]. Systemic corticosteroid is the first line treatment of IPH for acute bleeding [2,6,8,9].…”

“…Other diagnostic methods can be conducted for confirmation of hemosiderin-laden macrophages (siderophages) by bronchoalveolar lavage, sputum, or gastric lavage analysis [5][6][7]. Systemic corticosteroid is the first line treatment of IPH for acute bleeding [2,6,8,9]. Immunosuppressants, including azathioprine, hydroxychloroquine, and cyclophosphamide have been proposed in patients with unfavorable response to corticosteroid [1,4,10,11].…”