Congenital hyperinsulinism in infancy and childhood: challenges, unmet needs and the perspective of patients and families

Abstract

Background Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infants and children, and carries a considerable risk of neurological damage and developmental delays if diagnosis and treatment are delayed. Despite rapid advances in diagnosis and management, long-term developmental outcomes have not significantly improved in the past years. CHI remains a disease that is associated with significant morbidity, and psychosocial and financial burden for affected families, especially concerning the need for constant blood glucose monitoring throughout patients’ lives. Results In this review, we discuss the key clinical challenges and unmet needs, and present insights on patients’ and families’ perspective on their daily life with CHI. Prevention of neurocognitive impairment and successful management of patients with CHI largely depend on early diagnosis and effective treatment by a multidisciplinary team of specialists with experience in the disease. Conclusions To ensure the best outcomes for patients and their families, improvements in effective screening and treatment, and accelerated referral to specialized centers need to be implemented. There is a need to develop a wider range of centers of excellence and networks of specialized care to optimize the best outcomes both for patients and for clinicians. Awareness of the presentation and the risks of CHI has to be raised across all professions involved in the care of newborns and infants. For many patients, the limited treatment options currently available are insufficient to manage the disease effectively, and they are associated with a range of adverse events. New therapies would benefit all patients, even those that are relatively stable on current treatments, by reducing the need for constant blood glucose monitoring and facilitating a personalized approach to treatment.

Congenital Hyperinsulinism International: A Community Focused on Improving the Lives of People Living With Congenital Hyperinsulinism

“…The worst outcomes of the disease, brain damage and death, are preventable if the baby’s hypoglycemia is discovered before it is prolonged ( 4 – 6 ). For some, damage from hypoglycemia can occur in the first days of life.…”

“…There are many HI subtypes, characterized by genetic type (known or unknown), whether the condition is persistent or transient, diffuse or focal, or if the patient responds to diazoxide ( 1 – 10 ). Prevalence is reported to be from 1 in 2,500 births to 1 in 50,000 births, depending on where the individual with HI is born ( 3 – 6 , 11 – 13 ).…”

“…For the others with the condition, disease management is complicated, including one or more of the following: use of off-label medications via monthly or multiple daily injections or insulin pump, background dextrose through a feeding pump and gastrostomy tube, partial or subtotal pancreatectomy, frequent eating, and activity restrictions. No matter the type of HI, frequent daily blood glucose level checks with a home glucometer, and often with a continuous glucose monitor (CGM) are part of daily management ( 3 – 6 , 14 ).…”

“…For others, stabilization does not occur until later in childhood. Still others need medical management for decades or a lifetime ( 3 – 6 , 8 – 10 , 14 ).…”

“…In addition to the management of blood glucose to avoid hypoglycemia, people with HI often have other physical, developmental, and psychiatric issues. Feeding problems resulting from disease management and the condition itself, neurodiversity, and developmental delays resulting from prolonged hypoglycemia, and frequent co-morbidities like epilepsy, compound the issue of managing hypoglycemia on a regular basis ( 3 – 6 ).…”