Adult-Onset Diamond-Blackfan Anemia with RPL11 Gene Variation Case Report.

BACKGROUND Diamond-Blackfan anemia (DBA) is a rare genetic disorder associated with macrocytic anemia and reticulocytopenia, with patients usually transfusion-dependent in the first years of life. The disease inheritance is predominantly autosomal dominant, but varying presentations have been described owing to incomplete penetrance and widely variable expression. De novo mutations have been reported in about 55% of cases. This pediatric disease is commonly characterized by malformation of the extremities as well as craniofacial abnormalities and cardiac and urogenital defects. There have been reported cases of adult-onset DBA diagnosed through genetic testing. Although these adult-onset cases can vary in presentation, characteristic malformations are present in nearly half of patients. Treatment protocols include corticosteroids, blood transfusions, iron chelation, and bone marrow transplant. New investigational therapies are being evaluated. Roughly one-fourth of patients achieve remission and are able to maintain a stable hemoglobin level without intervention. CASE REPORT A 35-year-old woman with spina bifida and resultant paraplegia presented with new-onset transfusion-dependent hypoplastic anemia. Following an extensive evaluation, a RPL11 gene variant was found, confirming the diagnosis of DBA. CONCLUSIONS DBA should be considered in young adult patients with severe, transfusion-dependent, aregenerative anemia without definitive cause. Evaluation for nonclassical DBA should be considered and excluded.

Vaping-induced lung injury: brief report for the practicing clinician.

The USA is witnessing an outbreak of vaping-induced lung injuries associated with the drastic rise in e-cigarette use, especially among teenagers and young adults. Our understanding of the harmful effects of these products is expanding as an increasing amount of consumers seek medical care for lung-related illnesses. The knowledge of the long-term sequelae of e-cigarette use is limited due to their novelty, but a growing association exists between use and acute lung injury. We describe a case vignette of vaping-induced lung injury to increase physician awareness and discuss the applicability of preliminary diagnostic criteria.