Case Presentation: A 36 year old man with a history of iron deficiency anemia (IDA) of unclear etiology was admitted with a three-week history of progressively worsening fatigue, weakness and lightheadedness. Further questioning revealed a 12 month history of hemoptysis which he described as productive of about a half-dollar amount of blood every morning. He had a similar presentation in 2017 with significant IDA, but workup for GI bleed was negative.
Physical exam revealed normal vital signs, minimal bibasilar crackles and mucosal pallor. Initial labs showed a hemoglobin of 4.8 and severe iron deficiency anemia with transferrin saturation of 5%. Chest imaging revealed diffuse bilateral consolidative/groundlgass opacities that were concerning for diffuse alveolar hemorrhage (DAH). Bronchoscopy was performed and confirmed the presence of DAH with numerous hemosiderin-laden macrophages on bronchoalveolar lavage. An extensive infectious and inflammatory workup was undertaken to determine the cause of his DAH that was ultimately negative. This led us to consider a diagnosis of idiopathic pulmonary hemosiderosis (IPH), a diagnosis of exclusion. His degree of bleeding, however, could not solely explain the severity of his IDA, thus we turned our focus to other potential contributors. Celiac disease was considered as it has been linked to IPH in the rare Lane-Hamilton syndrome. Testing with TTG was positive, yet duodenal biopsy was inconsistent. Interestingly, however, celiac genotyping with HLA-DQ2 and DQ8 was positive, consistent with a diagnosis of Lane-Hamilton syndrome.
The patient was treated with iron supplementation, and was discharged on an empiric gluten-free diet, the treatment for Lane-Hamilton syndrome. He was instructed to follow up for ongoing evaluation.
Discussion: IPH is a rare disorder in a patient with iron deficiency anemia, hemoptysis and diffuse alveolar infiltrates. The definitive diagnosis is made by lung biopsy showing intra-alveolar hemosiderin-laden macrophages. The treatment for IPH in adults is a prolonged course of systemic corticosteroids, often lasting a year or longer. Lane-Hamilton syndrome is an even more rare entity that unites IPH and celiac disease. Resolution is often seen with institution of a gluten-free diet, with or without steroids.
Conclusions: Clinicians should include IPH and Lane-Hamilton syndrome in their differential when evaluating patients who present with hemoptysis and significant iron deficiency anemia. Evaluation for celiac disease should be considered in patients with IPH due to the noted association in Lane-Hamilton syndrome. Understanding this association is of particular importance in a hospital setting as the treatment for Lane-Hamilton syndrome is less complicated than other causes of DAH and can be completed on an outpatient basis.