ABSTRACT
Case Report: A 25-year-old woman with history of Diamond-Blackfan anemia (DBA) presented with a 3- week history of weakness and fatigue. The patient was in her usual state of health until 3 weeks prior when she was diagnosed with COVID-19, at which time she experienced cough, congestion, weakness, and fatigue. She reported that the cough and congestion improved after a few days, but the fatigue and weakness progressively worsened. Admission labs were notable for a hemoglobin of 5.5 g/dL with a MCV of 119.3 fL. She received 2 units of packed RBCs with improvement in hemoglobin to 8.9 g/dL. The patient was diagnosed with DBA at birth via bone marrow biopsy and had been stable on chronic prednisone with a baseline hemoglobin around 8 g/dL. Prior to this admission, she has only required one transfusion at 3 months old. Her outpatient management involved close monitoring of her hemoglobin and increasing/decreasing prednisone based on her trending hemoglobin. She had been stable on 15 mg/day of prednisone for the past few years. Her hematologist was consulted, and the decision was made to increase her dose of prednisone to 20 mg/day resulting in resolution of symptoms and stabilization of her hemoglobin level. Discussion(s): We present a rare case of DBA with worsening anemia in the setting of a recent COVID-19 infection. The literature regarding the risk and complications of COVID-19 in these patients is severely limited, with no current data on disease management, outcomes, or predictors of morbidity. DBA is a rare, congenital erythroid red cell aplasia that typically presents in infancy with an estimated incidence of 5 cases per 1 million births. DBA is characterized by progressive macrocytic anemia, congenital malformations, and increased risk of endocrine dysfunction and malignancies. Glucocorticoids are the first-line therapy for DBA, although the exact mechanism of how they stimulate erythropoiesis in DBA remains unknown. In terms of patient prognosis, approximately 40% are steroid-dependent, 40% are transfusiondependent, and 20% go into remission by age 25 years. Copyright © 2023 Southern Society for Clinical Investigation.
ABSTRACT
TYPE: Late Breaking TOPIC: Diffuse Lung Disease PURPOSE: The TRAIL1 trial was a randomized, double-blinded, placebo-controlled, phase 2 study of safety, tolerability and efficacy of pirfenidone in patients with RA-ILD. METHODS: The TRAIL1 trial recruited patients aged 18 to 85 years with established RA-ILD at 33 sites in 4 countries. The primary endpoint was the incidence of the composite of decline from baseline in percent predicted forced vital capacity (FVC%) of 10% or greater or death during the 52-week treatment period. Safety was reflected by differences between the treatment arms for the rate of adverse events, serious adverse events, acute exacerbations, hospitalizations, and all-cause mortality. RESULTS: With a randomization target of 270 participants, the study was stopped due to slow recruitment exacerbated by the COVID-19 pandemic. A total of 231 subjects provided consent and 123 were randomized. The proportions who met the primary endpoint were 11% on pirfenidone vs. 15% on placebo [OR=0.67 (0.22, 2.03), p=0.48]. Subjects on pirfenidone had a slower rate of decline in lung function as measured by estimated annual change in FVC(ml)(-66 vs. -146, p=0.0082) and FVC% (-1.02 vs. -3.21, p=0.0028) (Table and Figure 1). There was no significant difference in the rate of treatment-emergent serious adverse events. CONCLUSIONS: Although TRAIL1 was underpowered to detect a difference in the composite primary endpoint, pirfenidone was found to be safe and slowed decline of FVC over time in subjects with RA-ILD. CLINICAL IMPLICATIONS: This trial shows that prifenidone is safe in patients with rheumatoid arthritis-associated interstitial lung disease and slows the decline of forced vital capacity over time. DISCLOSURE: Nothing to declare. KEYWORD: Interstitial lung disease