Plasma exchange therapy for familial chylomicronemia syndrome in infant: A case report

Abstract

Introduction: Familial chylomicronemia syndrome (FCS) is a rare genetic disease. FCS usually manifests by the age of 10 years, and 25% of cases of FCS occur during infancy. Here we present a case of FCS in a male infant and summarize our experiences on the diagnosis and therapy of this case. Patient concerns: A male infant aged 1 month and 8 days had recurrent hematochezia and hyperchylomicronemia. Diagnosis: FCS based on symptoms and genetic test. Interventions: Plasma exchange therapy. Outcomes: His development was normal with a good spirit and satisfactory weight gain, and no hematochezia occurred again. Conclusion: Genetic test is important for accurate diagnosis of FCS, and we identified a new mutation of lipoprotein lipase gene c.88C>A which conformed to autosomal recessive inheritance. Plasma exchange therapy can be applied to infants with FCS with low risk and good outcomes.