Beyond survival: Multisystem long-term outcomes following HSCT in chronic granulomatous disease

Area of Science:

• Pediatric Hematology
• Immunology
• Transplantation Science

Background:

• Data on late complications following hematopoietic stem cell transplantation (HSCT) for pediatric chronic granulomatous disease (CGD) are scarce.
• Chronic granulomatous disease (CGD) is a primary immunodeficiency affecting phagocyte function.
• HSCT is a curative option for CGD, but long-term outcomes require further investigation.

Purpose of the Study:

• To evaluate the incidence and spectrum of late complications in pediatric CGD patients surviving >2 years post-HSCT.
• To assess the long-term survival and event-free survival rates after HSCT in this cohort.
• To highlight the need for comprehensive, long-term multidisciplinary follow-up care.

Main Methods:

• Retrospective analysis of 42 pediatric CGD patients who underwent HSCT between 1994 and 2020.
• Data collection included pre-HSCT comorbidities, HSCT details, survival outcomes, and detailed assessment of late complications.
• Complications were categorized into autoimmunity, organ-specific effects, endocrine, skeletal, neurological, psychological, visual, hearing impairments, and late malignancy.

Main Results:

• Excellent 10-year overall survival (95.2%) and event-free survival (81%) were observed.
• A significant proportion of patients (33%) developed autoimmunity, with 8 cases of relapsing or late-onset AI.
• Common late effects included psychological issues (19%), obesity (15%), gonadal dysfunction (9%), lung abnormalities (7), liver dysfunction (7), and short stature (7).

Conclusions:

• HSCT provides highly effective long-term survival for pediatric CGD patients.
• A substantial burden of diverse late complications exists, impacting multiple organ systems and psychological well-being.
• Extended multidisciplinary follow-up is crucial for managing these late sequelae and optimizing long-term health outcomes in CGD survivors.