Pulmonary haemorrhage and haemoptysis — clinical case

Case summary

This infant presents with the occult face of pulmonary haemorrhage: recurrent cough and tachypnoea with pallor, an iron-deficiency anaemia that will not respond to iron, and shifting bilateral infiltrates, with only coffee-ground vomit rather than frank haemoptysis. The essential insight is that a young child swallows rather than coughs up blood, so recurrent alveolar bleeding masquerades as anaemia and breathlessness, and his cow-milk-based feeding immediately raises the possibility of a milk-driven cause. [3] [4]

Initial assessment and investigations

The history and examination are directed at confirming lung bleeding, gauging severity, and hunting for a cause. He is pale and tachypnoeic with faltering growth, and his blood count confirms a microcytic, iron-deficiency anaemia. Alveolar haemorrhage is confirmed by an early-morning gastric aspirate showing abundant haemosiderin-laden macrophages, a useful non-invasive test in an infant who cannot expectorate, supported by bronchoalveolar lavage. [4] [3]

Because diffuse alveolar haemorrhage is a symptom rather than a diagnosis, an exclusion-based work-up follows. Immune disease is screened with ANCA, anti-glomerular basement membrane antibodies, and antinuclear antibodies, urinalysis and renal function are checked to exclude a pulmonary-renal syndrome, and an echocardiogram excludes a cardiac cause. Given his age and cow-milk feeding, cow milk precipitins are sent and return at high titre, and the immune and cardiac screens are negative. [4] [1]

Management

The high-titre milk precipitins with recurrent alveolar bleeding, iron-deficiency anaemia, and faltering growth point to Heiner syndrome, a hypersensitivity to cow milk protein. He is changed to strict cow milk protein elimination, which is both the treatment and, by response, the diagnostic confirmation. His iron stores are replenished, and because milk elimination controls the bleeding, prolonged corticosteroids can be avoided or minimised in his case. [1] [2]

Disposition and counselling

He is placed in structured multidisciplinary follow-up with dietetic support to ensure a safe, milk-free diet that still meets his growth needs, and with monitoring of haemoglobin, growth, and chest imaging for recurrence. The family is counselled that his recurrent chest illness and stubborn anaemia were caused by bleeding into the lungs driven by cow milk, that removing milk usually resolves the disease, and that reintroduction should only be considered cautiously under specialist supervision. Any return of pallor, cough, or breathlessness should prompt urgent review. [1] [3]