Why the study?
Familial chylomicronemia syndrome is a rare genetic disease with 25% of cases occurring during infancy, prompting the report to summarize diagnostic and therapeutic experiences.
Does plasma exchange therapy improve symptoms in an infant with familial chylomicronemia syndrome?
Does plasma exchange therapy improve symptoms in an infant with familial chylomicronemia syndrome?
Plasma exchange therapy can be safely and effectively used in infants with familial chylomicronemia syndrome to rapidly reduce triglyceride levels and resolve severe symptoms like gastrointestinal hemorrhage.
Hypothesis-generating for plasma exchange in infantile FCS; does not yet justify routine clinical use.
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.
No takes yet. Share an insight, caveat, or question.
Han et al. (2022) studied this question.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: