Pulmonary Hemosiderosis

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WHO-ICD-10 version:2010

Diseases of the respiratory system

OMIM Number

178550

Mode of Inheritance

Autosomal dominant

Description

Pulmonary hemosiderosis (PH) is a rare form of lung disorder characterized by hemorrhage into the lungs, resulting in the classic symptoms of hemoptysis, dyspnea, anemia, and the presence of transient pulmonary infiltrates on X-rays. The anemia is primary and lung damage is secondary to the accumulation of iron within the lungs. Over time, the pulmonary hemorrhage results in thickening of the alveolar basement membrane and interstitial fibrosis. Three variants of PH have been recognized. These include a form of PH associated with antibodies to the lungs and kidney (Goodpasture Syndrome), PH associated with immune complex diseases, and idiopathic PH (IPH), without any measurable immunologic association. Apart from the major characteristics of the condition mentioned above, other symptoms may include diarrhea, vomiting, fatigue, weakness, otitis media, cyanosis, and a failure to thrive.

PH can be suspected, based on the symptoms. In such a case, assaying the blood for iron, studying the chest radiographs, or analyzing the lung aspirations and/or biopsy can lead to a confirmation of the diagnosis. Immediate management of the condition concentrates on respiratory therapy, immunosuppression, and oxygen therapy. In severe cases, blood transfusion may be necessary.

The molecular basis for pulmonary hemosiderosis is not known. However, most studies suggest that the condition is caused due to structural defects in the alveolar capillaries of the basement membrane and/or endothelial cells.

Epidemiology in the Arab World

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Other Reports

Oman

Paul et al. (2000) reported the first case of idiopathic pulmonary hemosiderosis in the Middle East in a 2.4 year-old child of non-consanguineous parents. The patient, who had two other non-affected siblings, presented with features of pneumonia (cough, fever, and dyspnea), not responsive to antibiotics. Two months later, he was readmitted with the same complaints and he was anemic, emaciated, had clubbed fingers and toes, bilateral crepitations and ronchi were found on chest examination, and hepatosplenomegaly. Investigations revealed iron deficiency anemia, ESR of 8mm/hr, negative Mantoux test as well as normal T-cell and neutrophil function tests. No acid fast bacilli were isolated from his gastric juice. Chest X-ray revealed extensive bilateral pneumonic infiltrates which persisted from his first admission along with cardiomegaly. ECG showed sinus tachycardia with right atrial and ventricular enlargement, and 2D-echocardiography revealed pulmonary hypertension. A diagnosis of pulmonary hemosiderosis with organizing bronchiolitis was made after histopathological examination of a lung biopsy which revealed the following: hemosiderophages inside most alveoli (with Pearl's stain), recent hemorrhages in some alveoli, cuboidal metaplasia of the epithelium with prominent smooth muscles in the walls of some alveoli, with few neutrophils in the alveolar and bronchiolar lumina. However, no features of hypertension in the small pulmonary vessels were detected. The patient's serum complements were normal, and no antibodies were detected against the nuclear proteins, glomerular basement membrane proteins, or cow milk proteins. With the histopathologic findings, detection of hemosiderophages in patient's gastric lavage and with exclusion of other causes of hemosiderosis, the patient was identified as having idiopathic pulmonary hemosiderosis and was managed on a milk-free diet and iron supplements, along with prednisolone, and he responded well, both clinically (within few days) and radiologically (within two months).

Saudi Arabia

Lutfi et al. (2000) described two children from Saudi Arabia with pulmonary hemosiderosis. The first patient was a 5-year old boy who presented with lethargy, fatigue, and headache. He was found to have a severe pallor and tachycardia, but no other abnormality. Laboratory analysis revealed low hemoglobin levels (4.1 g/dl), while peripheral film showed hypochromia, microcytosis, and some fragmented RBCs. He was transfused with packed RBCs and put on oral iron. However, hemoglobin levels fluctuated between 5.2 and 8.6 g/dl and he continued to show persistently low serum iron levels. Two years later, he presented with a day old history of cough, respiratory distress, and fever, along with intercostals and subcostal recession. A provisional diagnosis of pulmonary hemosiderosis was considered, and confirmed via open lung biopsy, which showed large numbers of hemosiderin-laden macrophages within the alveoli. The patient was discharged on prednisolone, which improved his condition. His older sister was being treated in a separate hospital for unexplained hypochromic micocytic anemia. The second case was that of a 2-year old Saudi boy who presented with respiratory distress, coughing of blood, and passing dark colored stools. He was also distressed and pale, with hemoglobin 6.1 g/dl. Chest X-ray on his second admission showed severe bilateral opacification, and CT lungs showed diffuse interstitial and alveolar infiltration. Open lung biopsy confirmed pulmonary hemosiderosis. He responded well to hydroxychloroquine. Lutfi et al. (2000) suggested that doctors in Saudi Arabia have a high index for suspicion for this condition in patients with therapy-resistant iron deficiency anemia.

Tunisia

Yacoub et al. (1994) reported two cases of idiopathic pulmonary hemosiderosis in Tunisia. Case 1 was a 2 year-old boy who suffered from frequent, soft stools. Small bowel biopsy showed partial villous atrophy and circulating gliadin antibodies. The patient was placed on a gluten-free diet. Case 2 was an 8 year-old girl who suffered from severe anemia (Hb: 4 g/100 ml). She was found to have IPH and myocardiopathy. She had no manifestation, but a systematic search for celiac disease was positive (total villous atrophy; presence of circulating gliadin and alveolar basement membrane antibodies). The patient was placed on a gluten-free diet, prednisone and diuretics, but she died during a relapse 2 months later.

Maalej et al. (2005) reported the case of a 20-year-old-girl with IPH. She had no pulmonary vasculitis or capillaritis. Long-term treatment with systemic corticosteroids was followed by clinical remission lasting 4 years.

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