Health Related Quality of Life and Emotional Health in Children with Chronic Granulomatous Disease: A Comparison of Those Managed Conservatively with Those That Have Undergone Haematopoietic Stem Cell Transplant

Abstract

This study demonstrates the quality of life is reduced in CGD. Transplanted patients have quality of life comparable to levels reported in healthy children. This data will help inform families and clinicians when deciding about treatment and may have relevance for other immunodeficiencies treated with transplant.

Treosulfan-based conditioning for allogeneic HSCT in children with chronic granulomatous disease: a multicenter experience

“…[5][6][7] In addition, growth and quality of life are improved in transplanted patients compared with those treated conservatively. 4,8 Historically, high-risk patients with ongoing infectious or active inflammatory complications at HSCT had considerable transplant-related mortality up to 38%. 9,10 Efforts to reduce the toxicity of the conditioning regimen were complicated by high rates of autologous reconstitution and graftversus-host disease (GVHD).…”

Reconstitución inmune exitosa mediante trasplante de células madre hematopoyéticas en un paciente colombiano afectado con enfermedad granulomatosa crónica

“…Sin embargo, estos solo reducen la frecuencia y la gravedad de las enfermedades infecciosas a las que son propensos quienes padecen la enfermedad, y que, indefectiblemente, afectan su calidad de vida e, incluso, causan la muerte (25). De hecho, con el tratamiento médico solo 50 % de los pacientes llegan a los 30 años de edad (26,27).…”

“…Esta opción de tratamiento debe ofrecerse lo más pronto posible, antes de que se presenten infecciones graves, enfermedad inflamatoria u otras complicaciones potencialmente fatales (29). Asimismo, los pacientes con esta enfermedad que reciben un trasplante de células madre hematopoyéticas tienen una calidad de vida comparable a la reportada en niños sanos, mientras que los que reciben tratamiento convencional presentan menor calidad de vida (27).…”

Hematopoietic Stem Cell Transplantation for Primary Immunodeficiencies

“…Notably, although the overall survival was the same between transplanted versus non transplanted patients, quality of life appeared to be better in the transplanted group. 65 Moreover, investigators at NIH, using a cohort of over 200 patients, have correlated outcomes with the percentage of oxidase production demonstrating a significant increase in mortality with lower oxidase production. 66 This suggests that patients with lower oxidase production would benefit from transplantation and the PIDTC is now implementing a multicentre study to investigate the role of transplantation in the management of patients with CGD compared to standard medical therapy in cohorts with the same level of oxidase production.…”