IPH, also known as Ceelen’s disease, is a chronic disease characterised by recurrent episodes of diffuse alveolar haemorrhage.1
IPH typically presents in children and young adults with the triad of haemoptysis, pulmonary infiltrates, and anaemia. The pathogenesis remains largely unknown. Although coexistence of IPH and gluten enteropathy points to an immunological process, BAL, lung biopsy, and laboratory tests characteristically are without evidence of pulmonary vasculitis/capillaritis or autoimmune disease, such as lupus erythematosus, Wegener’s granulomatosis, or Goodpasture’s syndrome.2
In addition, cardiopulmonary examination is unremarkable regarding haemodynamic disorders responsible for alveolar haemorrhage—for example, pulmonary embolism, mitral stenosis, chronic left heart failure or pulmonary hypertension.1
As observed in our case, many patients with IPH have moderate to severe anaemia. Following pulmonary haemorrhage, alveolar macrophages phagocytose erythrocytes and accumulate haemosiderin iron, which is not available for haemoglobin synthesis. Accordingly, IPH patients develop iron deficiency anaemia as indicated by decreased bone marrow haemosiderin and increased soluble transferrin receptor values. Serum ferritin values often are misleadingly normal or elevated.1
Since anaemia owing to repeated occult alveolar haemorrhages can be the only clinical sign, awareness of IPH should help to facilitate its diagnosis.
Since Ceelen’s disease (IPH) is a rare disease, there is no standard treatment proven in well controlled clinical trials. In patients with concomitant coeliac disease, a gluten-free diet can result in clinical remission.1
For the other patients, glucocorticoids and immunosuppressive agents are commonly used.1,3
The use of systemic glucocorticoids for IPH resulted from the hypothesis of an immune pathogenesis. Although data are sparse, case reports and case series imply that systemic glucocorticoids reduce the morbidity and mortality of acute episodes of alveolar haemorrhage. In addition, patients with recurrent IPH episodes respond favourably to chronic oral glucocorticoids, with decreased frequency of alveolar haemorrhages and a reduction of fibrotic changes. For example, in a series of 23 children with IPH, low dose prednisone was associated with improved survival compared to historical controls.4
An immunosuppressive drug such as azathioprine may be added to systemic glucocorticoids in patients who have severe initial disease or have recurrent episodes of alveolar haemorrhage.5
However, evidence supporting the efficacy of this approach is limited.1,3,5,6
Recurrent alveolar haemorrhage may eventually result in pulmonary fibrosis and respiratory failure. Due to great variation of clinical courses and lack of large patient series, the overall prognosis of IPH remains difficult to assess in individual patients.3,6
- Idiopathic pulmonary haemosiderosis (IPH) is a rare disease characterised by recurrent episodes of diffuse alveolar haemorrhage.
- The diagnosis of IPH should be considered in children and young adults presenting with the triad of haemoptysis, pulmonary infiltrates, and anaemia.
- Differential diagnoses of IPH include pulmonary vasculitis/capillaritis and autoimmune disease, such as lupus erythematosus, Wegener’s granulomatosis, or Goodpasture’s syndrome.
- Cardiopulmonary disease such as pulmonary embolism, mitral stenosis, chronic left heart failure or pulmonary hypertension must be ruled out.
- There is no standard treatment for IPH; however, corticosteroids and immunosuppressive drugs may improve symptoms and survival.