Idiopathic pulmonary hemosiderosis

What it is

From: Orphanet

Idiopathic pulmonary hemosiderosis is a respiratory disease due to repeated episodes of diffuse alveolar hemorrhage without any underlying apparent cause, most often in children. Anemia, cough, and pulmonary infiltrates on chest radiographs are found in majority of the patients.

Reported clinical features and what the terms mean

The following findings are associated with this condition in Orphanet. They are not a checklist for diagnosing yourself, and they do not all occur in every affected person. Some are examination, imaging or laboratory findings that cannot be recognised at home.

The frequency labels describe how often a finding was reported among people with the condition in the source. They do not give the chance that a person with that symptom has the condition. Definitions below reproduce HPO terminology; they explain the term, not the likely severity in an individual.

Iron deficiency anemia · Very frequent (99-80%)

Cough · Frequent (79-30%)

A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.

Fatigue · Frequent (79-30%)

A subjective feeling of tiredness characterized by a lack of energy and motivation.

Ground-glass opacification on pulmonary HRCT · Frequent (79-30%)

On chest radiographs, ground-glass opacity appears as an area of hazy increased lung opacity, usually extensive, within which margins of pulmonary vessels may be indistinct. On CT scans, it appears as hazy increased opacity of lung, with preservation of bronchial and vascular margins. It is caused by partial filling of airspaces, interstitial thickening (due to fluid, cells, and/or fibrosis), partial collapse of alveoli, increased capillary blood volume, or a combination of these, the common factor being the partial displacement of air. Ground-glass opacity is less opaque than consolidation, in which bronchovascular margins are obscured.

Hemoptysis · Frequent (79-30%)

Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs.

Hepatosplenomegaly · Frequent (79-30%)

Simultaneous enlargement of the liver and spleen.

Pallor · Frequent (79-30%)

Abnormally pale skin.

Pulmonary infiltrates · Frequent (79-30%)

Allergy · Occasional (29-5%)

An allergy is an immune response or reaction to substances that are usually not harmful.

Antineutrophil antibody positivity · Occasional (29-5%)

The presence of autoantibodies in the serum that react against neutrophils.

Antinuclear antibody positivity · Occasional (29-5%)

The presence of autoantibodies in the serum that react against nuclei or nuclear components.

Autoimmune antibody positivity · Occasional (29-5%)

The presence of an antibody in the blood circulation that is directed against the organism's own cells or tissues.

Cardiomegaly · Occasional (29-5%)

Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography.

Crackles · Occasional (29-5%)

Crackles are discontinuous, explosive, and nonmusical adventitious lung sounds normally heard in inspiration and sometimes during expiration. Crackles are usually classified as fine and coarse crackles based on their duration, loudness, pitch, timing in the respiratory cycle, and relationship to coughing and changing body position.

Other findings in the same source

From: Orphanet

Additional reported features include Diffuse alveolar hemorrhage (Occasional (29-5%)); Dyspnea (Occasional (29-5%)); Failure to thrive (Occasional (29-5%)); Fever (Occasional (29-5%)); Heart murmur (Occasional (29-5%)); Hepatomegaly (Occasional (29-5%)); Nodular pattern on pulmonary HRCT (Occasional (29-5%)); Pulmonary fibrosis (Occasional (29-5%)); Respiratory failure (Occasional (29-5%)); Restrictive ventilatory defect (Occasional (29-5%)). This is a selected summary, not a complete description of the condition.

When it may begin

From: Orphanet

Childhood

Frequency and the population described

From: Orphanet

Annual incidence: <1 / 1 000 000; Europe; Value and class.

Which doctor should you see?

The suggested department for discussing Idiopathic pulmonary hemosiderosis is Pulmonology, with a pulmonologist / chest physician as the relevant type of clinician. General physician / Family Medicine; paediatrician for children. Referral depends on symptoms.

This is an editorial referral starting point. The appropriate clinic depends on the person’s age, symptoms, previous diagnosis and local services. The first clinician can decide whether another specialty or a team is needed; a department label does not confirm the diagnosis.

How to prepare for an assessment

Bring a short timeline of the main symptoms: when they first appeared, whether they are constant or episodic, what seems to change them, and how they affect daily activities. Include previous reports, discharge summaries, current medicines and supplements, allergies, and any relevant family history. A dated record is more useful than trying to match every feature in an online article.

Ask the clinician what is already established and what remains uncertain. If a test is suggested, ask what question it answers, what its limitations are and how the result would change the next step. The information here is not an instruction to arrange every possible test. In children, bring growth, developmental and school information if it is relevant to the concern.

• What is the likely explanation for the breathing symptoms?
• Would a breathing test or another investigation change management?
• If symptoms worsen, what written action plan should be followed?

Treatment discussions and follow-up

The material gathered for this draft does not provide a complete condition-specific treatment pathway for Idiopathic pulmonary hemosiderosis. That gap does not mean that treatment is unavailable. A clinician needs to establish the diagnosis and review current guidance before recommending medicines, procedures, rehabilitation or other support.

Before leaving the appointment, clarify the next review date, who will communicate results, and whom to contact if the situation changes. Discuss difficulties with sleep, work, school, mobility, eating or emotional wellbeing when these are relevant. Practical support may require coordination between the treating clinician and other services.

The collected references do not establish a complete prevention or long-term outlook section for this entry. Missing information should not be interpreted as proof that prevention is impossible or that a particular outcome is inevitable. Ask what is known for the exact subtype, stage and personal circumstances, and which uncertainties remain.

When to seek emergency help

Severe breathing difficulty, collapse, new stroke-like symptoms, a seizure that is prolonged or repeated without recovery, uncontrolled major bleeding, or an immediate risk of self-harm require emergency help. In India, call 112 or reach the nearest emergency department. This is a general, non-exhaustive warning list; it is not a condition-specific triage tool.