A Population-Based Study on Childhood Aplastic Anemia—Incidence, Outcomes, and Health-Related Quality of Life

Abstract

Background: Childhood aplastic anemia (AA) is a rare disease, and both the disease itself and its treatment cause significant morbidity. We aimed to determine the contemporary incidence of childhood AA in Finland, to compare the clinical characteristics of AA against inherited bone marrow failure syndromes (IBMFS) and refractory cytopenia of childhood (RCC) fulfilling the Camitta criteria for AA, and to describe survival outcomes and health-related quality of life (HRQoL) following childhood bone marrow failure. Procedure: Our cohort study included all 52 Finnish children fulfilling the classical criteria for AA between 2006 and 2020. Results: The incidence of AA was 2.9/million children/year. Of the 52 patients, 41 (78.9%) had AA, five (9.6%) had IBMFS, and six (11.5%) had RCC. Severe disease was more common among patients with AA than IBMFS or RCC (92.7% vs. 63.6%), whereas a history of hepatitis, 6p copy-number neutral loss of heterozygosity, and paroxysmal nocturnal hemoglobinuria clones were exclusively associated with AA. Immunosuppressive therapy (IST) was given for 27/38 (71.1%) patients with severe AA, with a response rate of 66.7%. Hematopoietic stem cell transplantation (HSCT) was performed for 21/38 (55.3%) patients with severe AA and nine of 11 (81.8%) with IBMFS or RCC. Of the patients with AA receiving IST, 11/27 (41%) subsequently required HSCT. Overall survival was 92.7% for patients with AA, and 81.8% for IBMFS or RCC. Although patients with AA reported generally good long-term HRQoL, especially females experienced problems in several domains. Conclusions: Contemporary treatment facilitates good long-term survival and HRQoL in children with AA.