Table 1 Case Descriptions
From: Diffuse alveolar hemorrhage in children with trisomy 21
Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 | |
|---|---|---|---|---|---|
Presentation | |||||
Sex | Male | Female | Female | Female | Female |
Age at 1st known DAH (years) | 7 | 3 | 9 | 8 | 3 |
Presenting Symptoms | Fever, rash, joint pain, respiratory failure | Persistent oxygen requirement | Recurrent pneumonia and aspiration | Respiratory Distress, hypoxia | Hemoptysis |
Hemoptysis | No | No | No | No | Yes |
Laboratory Resulta | |||||
White Blood Cell Count | H | N | N | U | N |
Hemoglobin | L | L | H | L | N |
Platelets | L | N | N | U | N |
Inflammatory Markers | |||||
Erythrocyte Sedimentation Rate | H | H | N | U | N |
C-reactive Protein | H | H | N | U | U |
Ferritin | H | H | U | U | U |
Antibodiesb | |||||
Positive | – | – | C-ANCA, MPO | MPO | ANA, SSA, RNP, Smith, Histone, CCP, RF |
Negative | ANCA, ANA | – | ANA, Anti-GBM | ANCA, PR3, ANA | – |
Creatinine | H | U | U | U | |
Investigationsb | |||||
Echocardiogram | ND | Mild PAH | Mild PAH, AV regurgitation | Mild PAH, AV regurgitation and stenosis | ND |
Bronchoscopy with BAL | ND | Bloody fluid return | Hemosiderin-Laden Macrophages | Bloody fluid return | Hemosiderin-Laden Macrophages |
Chest CT | ND | Y | Y | Y | Y |
Ground Glass Opacities | – | Y | Y | Y | Y |
Cystic Lucencies | – | Y | Y | Y | Y |
Other Findings | – | Atelectasis, small pleural effusions | Atelectasis, septal thickening | Diffuse centrilobular nodules, septal thickening | – |
Lung Biopsyc | d | ||||
Alveolar Hemorrhage | Mild | Mild | Marked | Mild | Moderate |
Hemosiderin | Mild | Moderate | Marked | Marked | Minimal |
Abnormal Alveolar Growth | Y | Y | Y | Y | Y |
Pulmonary Artery Thickening | Moderate | Moderate | Moderate | Moderate | Moderate |
Other Findings | Double capillary layer, focal interstitial fibrosis | Focal pneumonia, cholesterol clefts, subpleural type 2 cell proliferation | Airway Damage (repeat biopsy with plasma cell/CD3+ lymphocytes) | Double capillary layer, rare interstitial and pleural perivascular neutrophils | – |
Treatment | |||||
Glucocorticoids | Y | Y | Y | Y | Y |
Other Medications | Antibiotics | Continued anakinra for SJIA | IVIG | IVIG, Rituximab | – |
Outcome | |||||
Deceased | Remained on 0.5 L/min of oxygen via nasal cannula 3 months later, then lost to follow up | Repeat BAL with red blood cells 1 year later. Therapy stopped after 20 months. No recurrences since (6 years). | 2 recurrences, both requiring ICU admission (one with Influenza B, one with Human Metapneumovirus). No recurrences since (1 year). | Recurrences through age 14. Glucocorticoids stopped with no known recurrences since (3 years). | |