RARE DISEASE
Diffuse alveolar hemorrhage
Diffuse alveolar hemorrhage
Diffuse alveolar hemorrhage
Drug discovery
2
drugs
With orphan designations
Overview
Diffuse alveolar hemorrhage (DAH) is a life-threatening syndrome marked by intra-alveolar bleeding, often secondary to autoimmune disorders (e.g., vasculitis, systemic lupus erythematosus), coagulation defects, infections, or toxins. Clinical hallmarks include dyspnea, hemoptysis, anemia, and diffuse pulmonary infiltrates. Diagnosis requires bronchoscopy with bronchoalveolar lavage showing progressively bloody fluid. Treatment focuses on immunosuppression (corticosteroids, cyclophosphamide, rituximab) for autoimmune causes, supportive respiratory care, and addressing underlying etiologies. Mortality remains high (20–50%), particularly with shock, renal failure, or delayed intervention [1][2][5][14].
Therapies
High-dose corticosteroids (e.g., methylprednisolone) and immunosuppressants (cyclophosphamide, rituximab) [1][3][5].
Plasma exchange for Goodpasture syndrome or severe vasculitis [1][11].
Recombinant factor VIIa or antifibrinolytics in refractory cases; invasive ventilation for respiratory failure [3][7][11].
Categories: rare respiratory diseases
Research Papers
639 drug discovery papers about Diffuse alveolar hemorrhage, with 3 first-in-class emerging drug candidates forecasted to outperform the average preclinical success rate. Recent publications:
639 drug discovery papers about Diffuse alveolar hemorrhage, with 3 first-in-class emerging drug candidates forecasted to outperform the average preclinical success rate. Recent publications:
2026-07-10 | Idiopathic Pulmonary Hemosiderosis: A Comprehensive Review of Pathophysiology, Diagnostic Paradigms, and Management Strategies in the Context of Diffuse Alveolar Hemorrhage
Idiopathic pulmonary hemosiderosis (IPH) represents a rare, potentially life-threatening pulmonary syndrome characterized by recurrent episodes of diffuse alveolar hemorrhage (DAH) in the absence of an identifiable underlying etiology. As a diagnosis of strict exclusion within the broader spectrum of DAH, IPH poses substantial diagnostic and therapeutic challenges to clinicians across multiple specialties. This comprehensive review synthesizes current evidence regarding the etiopathogenesis, epidemiology, clinical presentation, diagnostic evaluation, and management of IPH, with particular emphasis on its conceptualization as an immune-mediated disorder and its integration within the contemporary classification of children's interstitial lung disease (chILD). The pathogenesis of IPH remains incompletely elucidated; however, accumulating evidence supports a fundamentally immune-dysregulatory mechanism, with autoantibodies detectable in a significant proportion of patients and well-documented associations with autoimmune conditions, most notably celiac disease, which defines the clinically significant Lane–Hamilton syndrome. The clinical presentation is remarkably heterogeneous, ranging from acute respiratory failure and massive hemoptysis to isolated iron-deficiency anemia without overt pulmonary symptoms, particularly in pediatric populations. Diagnosis requires systematic exclusion of vasculitic, infectious, cardiac, coagulopathic, and toxicologic etiologies through a structured approach encompassing serologic evaluation, bronchoalveolar lavage, high-resolution computed tomography, and, when indicated, lung biopsy demonstrating bland alveolar hemorrhage without capillaritis. Management is predicated upon immunosuppressive therapy, with systemic corticosteroids serving as the cornerstone, augmented by steroid-sparing agents in refractory or relapsing disease, and supplemented by strict gluten-free dietary intervention in patients with coexistent celiac disease. Prognosis has improved substantially in the modern immunosuppressive era, although significant morbidity persists, with relapse rates approaching 60% and progressive pulmonary fibrosis representing a major long-term complication. An interprofessional, collaborative approach involving pulmonology, rheumatology, gastroenterology, and supportive care services is essential to optimize diagnostic accuracy, therapeutic adherence, and longitudinal outcomes in this challenging patient population.
2026-06-30 | Unilateral diffuse alveolar haemorrhage as an atypical presentation of PR3-ANCA-associated vasculitis: A case report.
Diffuse alveolar haemorrhage (DAH) is a life-threatening pulmonary manifestation of small-vessel vasculitis, most commonly associated with anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis. Unilateral DAH has been infrequently reported and may pose diagnostic challenges, as its radiological presentation can mimic pneumonia, pulmonary oedema, or localized haemorrhage. This atypical presentation may delay recognition of the underlying vasculitis and appropriate immunosuppressive therapy. We present a case of a woman in her thirties with previously diagnosed PR3-ANCA-associated vasculitis who presented with acute worsening of dyspnea (mMRC grade IV) and hemoptysis. Radiological assessments revealed extensive right-sided ground-glass opacities with areas of consolidation and minimal left lower lobe involvement. Bronchoscopy with sequential bronchoalveolar lavage (BAL) showed progressively haemorrhagic aliquots consistent with DAH. Laboratory investigations revealed anemia (Hb 7.1 mg/dL) and elevated serum creatinine (5.02 mg/dL). The patient developed type I respiratory failure requiring mechanical ventilation and hemodialysis. She was treated with pulse intravenous methylprednisolone followed by rituximab therapy, along with trimethoprim-sulfamethoxazole prophylaxis. The patient improved clinically, radiologically, and biochemically and was discharged on supplemental oxygen.
2026-06-27 | Diffuse alveolar hemorrhage secondary to antiphospholipid syndrome presenting as recurrent multifocal pneumonia
Introduction: Diffuse alveolar hemorrhage (DAH) is a rare but life-threatening pulmonary manifestation of antiphospholipid syndrome (APS) that may present with nonspecific symptoms and radiographic findings mimicking infection, leading to delayed diagnosis. Early recognition is critical given its high relapse rates and associated morbidity despite immunosuppressive therapy. Case Report: A 31-year-old woman with APS and chronic pulmonary embolism presented with progressive hypoxemia and recurrent multifocal pulmonary infiltrates, initially treated as pneumonia despite repeatedly negative infectious evaluations. Surgical lung biopsy demonstrated pulmonary capillaritis with hemosiderin-laden macrophages consistent with DAH due to APS, an immune-mediated injury to pulmonary vasculature. The patient initially improved with corticosteroid therapy but experienced relapses during steroid tapering and failed Rituximab despite appropriate CD20 depletion. She subsequently required escalation to cyclophosphamide and adjunctive plasma exchange with clinical stabilization. Conclusion: Antiphospholipid syndrome-associated DAH should be considered in patients with persistent pulmonary infiltrates and unexplained hypoxemic respiratory failure despite antimicrobial therapy. Early diagnosis is essential, as treatment-refractory disease may require escalation beyond corticosteroids to additional immunosuppressive therapies.
2026-07-10 | Idiopathic Pulmonary Hemosiderosis: A Comprehensive Review of Pathophysiology, Diagnostic Paradigms, and Management Strategies in the Context of Diffuse Alveolar Hemorrhage
Idiopathic pulmonary hemosiderosis (IPH) represents a rare, potentially life-threatening pulmonary syndrome characterized by recurrent episodes of diffuse alveolar hemorrhage (DAH) in the absence of an identifiable underlying etiology. As a diagnosis of strict exclusion within the broader spectrum of DAH, IPH poses substantial diagnostic and therapeutic challenges to clinicians across multiple specialties. This comprehensive review synthesizes current evidence regarding the etiopathogenesis, epidemiology, clinical presentation, diagnostic evaluation, and management of IPH, with particular emphasis on its conceptualization as an immune-mediated disorder and its integration within the contemporary classification of children's interstitial lung disease (chILD). The pathogenesis of IPH remains incompletely elucidated; however, accumulating evidence supports a fundamentally immune-dysregulatory mechanism, with autoantibodies detectable in a significant proportion of patients and well-documented associations with autoimmune conditions, most notably celiac disease, which defines the clinically significant Lane–Hamilton syndrome. The clinical presentation is remarkably heterogeneous, ranging from acute respiratory failure and massive hemoptysis to isolated iron-deficiency anemia without overt pulmonary symptoms, particularly in pediatric populations. Diagnosis requires systematic exclusion of vasculitic, infectious, cardiac, coagulopathic, and toxicologic etiologies through a structured approach encompassing serologic evaluation, bronchoalveolar lavage, high-resolution computed tomography, and, when indicated, lung biopsy demonstrating bland alveolar hemorrhage without capillaritis. Management is predicated upon immunosuppressive therapy, with systemic corticosteroids serving as the cornerstone, augmented by steroid-sparing agents in refractory or relapsing disease, and supplemented by strict gluten-free dietary intervention in patients with coexistent celiac disease. Prognosis has improved substantially in the modern immunosuppressive era, although significant morbidity persists, with relapse rates approaching 60% and progressive pulmonary fibrosis representing a major long-term complication. An interprofessional, collaborative approach involving pulmonology, rheumatology, gastroenterology, and supportive care services is essential to optimize diagnostic accuracy, therapeutic adherence, and longitudinal outcomes in this challenging patient population.
2026-06-30 | Unilateral diffuse alveolar haemorrhage as an atypical presentation of PR3-ANCA-associated vasculitis: A case report.
Diffuse alveolar haemorrhage (DAH) is a life-threatening pulmonary manifestation of small-vessel vasculitis, most commonly associated with anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis. Unilateral DAH has been infrequently reported and may pose diagnostic challenges, as its radiological presentation can mimic pneumonia, pulmonary oedema, or localized haemorrhage. This atypical presentation may delay recognition of the underlying vasculitis and appropriate immunosuppressive therapy. We present a case of a woman in her thirties with previously diagnosed PR3-ANCA-associated vasculitis who presented with acute worsening of dyspnea (mMRC grade IV) and hemoptysis. Radiological assessments revealed extensive right-sided ground-glass opacities with areas of consolidation and minimal left lower lobe involvement. Bronchoscopy with sequential bronchoalveolar lavage (BAL) showed progressively haemorrhagic aliquots consistent with DAH. Laboratory investigations revealed anemia (Hb 7.1 mg/dL) and elevated serum creatinine (5.02 mg/dL). The patient developed type I respiratory failure requiring mechanical ventilation and hemodialysis. She was treated with pulse intravenous methylprednisolone followed by rituximab therapy, along with trimethoprim-sulfamethoxazole prophylaxis. The patient improved clinically, radiologically, and biochemically and was discharged on supplemental oxygen.
2026-06-27 | Diffuse alveolar hemorrhage secondary to antiphospholipid syndrome presenting as recurrent multifocal pneumonia
Introduction: Diffuse alveolar hemorrhage (DAH) is a rare but life-threatening pulmonary manifestation of antiphospholipid syndrome (APS) that may present with nonspecific symptoms and radiographic findings mimicking infection, leading to delayed diagnosis. Early recognition is critical given its high relapse rates and associated morbidity despite immunosuppressive therapy. Case Report: A 31-year-old woman with APS and chronic pulmonary embolism presented with progressive hypoxemia and recurrent multifocal pulmonary infiltrates, initially treated as pneumonia despite repeatedly negative infectious evaluations. Surgical lung biopsy demonstrated pulmonary capillaritis with hemosiderin-laden macrophages consistent with DAH due to APS, an immune-mediated injury to pulmonary vasculature. The patient initially improved with corticosteroid therapy but experienced relapses during steroid tapering and failed Rituximab despite appropriate CD20 depletion. She subsequently required escalation to cyclophosphamide and adjunctive plasma exchange with clinical stabilization. Conclusion: Antiphospholipid syndrome-associated DAH should be considered in patients with persistent pulmonary infiltrates and unexplained hypoxemic respiratory failure despite antimicrobial therapy. Early diagnosis is essential, as treatment-refractory disease may require escalation beyond corticosteroids to additional immunosuppressive therapies.
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Drug Discovery Landscape
2 orphan drug designations for Diffuse alveolar hemorrhage.
2 orphan drug designations for Diffuse alveolar hemorrhage.
Drug | Therapy type | Regulator | Orphan designation | Approval | Sponsor |
|---|---|---|---|---|---|
Recombinant coagulation factor VIIa | proteins | FDA | 2006-04-26 | — | Savara Inc. |
Eptacog alfa (activated) [Newest7] | proteins | EMA | 2005-12-14 | — | [INACTIVE] Savara ApS |
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