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Plasma exchange therapy for familial chylomicronemia syndrome in infant: A case report
Lei Han1, Guangfeng Qiang1, Lei Yang1
1Department of Pediatrics, Affiliated Hospital of Jining Medical University, Jining, China.
Insights
Familial chylomicronemia syndrome (FCS) is a rare genetic disorder. This case highlights early diagnosis via genetic testing and successful plasma exchange therapy in an infant, showing good outcomes.
Area of Science:
- Genetics
- Pediatrics
- Metabolic Disorders
Background:
- Familial chylomicronemia syndrome (FCS) is a rare genetic disorder with early onset, often presenting in childhood or infancy.
- Genetic mutations, particularly in the lipoprotein lipase gene, underlie FCS, leading to severe hypertriglyceridemia.
- Early diagnosis and intervention are crucial for managing FCS and preventing complications.
Observation:
- A male infant presented with recurrent hematochezia and hyperchylomicronemia at just over one month old.
- The infant exhibited symptoms consistent with severe hypertriglyceridemia, necessitating prompt evaluation.
- Clinical presentation in infancy underscores the potential for early-onset FCS.
Findings:
- Genetic testing confirmed FCS and identified a novel mutation (c.88C>A) in the lipoprotein lipase gene, consistent with autosomal recessive inheritance.
- Plasma exchange therapy was employed as an intervention for the infant's hyperchylomicronemia.
- The infant showed normal development, weight gain, and resolution of hematochezia post-intervention.
Implications:
- Genetic testing is vital for accurate diagnosis of FCS, especially in infants with suggestive symptoms.
- Plasma exchange therapy is a safe and effective treatment option for infants diagnosed with FCS.
- This case contributes to understanding FCS in infancy and the management of this rare genetic disorder.
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.
