Endocrine Abstracts

JOINT801

Background: Congenital hyperinsulinism (CHI) is a rare disorder caused by excessive insulin secretion, leading to persistent hypoglycemia. CHI poses significant challenges for patients and caregivers, affecting dietary, medical, cognitive, and social aspects of life. Effective strategies are essential for improving quality of life (QoL) and long-term outcomes.

Objective: To summarize the daily challenges in CHI management and propose strategies to address them, focusing on dietary, medical, cognitive, social, and long-term aspects, as well as therapeutic advancements.

Methods: A systematic review of studies published between 1990 and 2025 identified key challenges and solutions across multiple domains. Data from 16 studies were analyzed, including patient cohorts and reviews on QoL impacts and management strategies.

Results: 1. Dietary Management: CHI requires frequent meals or high-protein, low-carbohydrate diets. Severe cases may need overnight feeding or gastrostomy. Personalized dietary plans and continuous glucose monitoring (CGM) reduce caregiver burden.

2. Medical Management: Lifelong medications, such as diazoxide and somatostatin analogs, pose challenges due to side effects and administration burden. Long-acting therapies like lanreotide lower treatment frequency, while caregiver training in device management enhances outcomes.

3. Cognitive and Physical Impact: Recurrent hypoglycemia can cause developmental delays and poor school performance. Early physical and cognitive therapies, coupled with school accommodations, improve outcomes.

4. Social and Psychological Impact: Social isolation and emotional stress affect both children and caregivers. Inclusive activities and counseling alleviate these challenges.

5. Caregiver Burden: Constant vigilance and financial strain create stress. Respite care and financial support programs help alleviate these pressures.

6. Therapeutic Advancements: PET/CT imaging distinguishes between focal and diffuse CHI, enabling tailored interventions. Long-acting therapies improve QoL by reducing treatment burden. Advocacy and standardized care protocols support families globally.

Conclusions: Effective CHI management requires addressing daily challenges to improve patient and caregiver QoL. Advances in therapies, genetic testing, and imaging have significantly mitigated these challenges, though financial and logistical barriers remain. Further research should explore long-term impacts of personalized therapies and global access to advanced care.

Keywords: Congenital hyperinsulinism, quality of life, dietary management, somatostatin analogs, caregiver burden, PET/CT imaging, advocacy programs.

Conclusions: CHI management requires a multidisciplinary approach addressing medical, dietary, psychological, and social challenges. Personalized interventions, advanced technologies, caregiver support, and long-term care strategies are crucial to improving outcomes and quality of life for affected families.