Persistent hyperinsulinemic hypoglycemia of infancy (PHHI), previously called familial hyperinsulinism, congenital hyperinsulinemia, and primary islet cell hypertrophy (nesidioblastosis), is the most common cause of persistent hypoglycemia in infancy. PHHI is a genetic disorder with familial and sporadic forms, both of which are characterized by dysregulation of insulin secretion. Early recognition, diagnosis, and treatment are necessary to prevent or minimize neurologic damage from recurrent or prolonged episodes of hypoglycemia.
PHHI is a clinically and genetically heterogeneous disorder [1-4]. The clinical manifestations range from life-threatening hypoglycemia presenting on the first day of life to only mildly symptomatic hypoglycemia in a child or adolescent that may be difficult to identify. The response to medical and surgical therapy also varies [1-3].
The treatment and complications of PHHI will be presented here. The pathology, genetics, clinical features, and diagnosis of PHHI and a review on islet cell tumors (insulinomas), which have similar clinical and biochemical features to PPHI, are discussed in more detail separately. (See "Pathogenesis, clinical features, and diagnosis of persistent hyperinsulinemic hypoglycemia of infancy" and "Insulinoma".)
The primary goal of therapy in persistent hyperinsulinemic hypoglycemia of infancy (PHHI) is the prevention of acute neurologic symptoms (eg, seizure, lethargy, coma) and long-term sequelae (eg, epilepsy, cognitive deficits, microcephaly) of prolonged and/or recurrent hypoglycemia .
●The immediate goal is to increase and maintain the blood glucose concentration in a safe range (above 70 mg/dL [3.9 mmol/L]) via intravenous administration of glucose and/or enteral feeding.