Familial Hyperchylomicronemia Syndrome in a Term Neonate.

Area of Science:

• Genetics
• Metabolic Disorders
• Lipoprotein Metabolism

Background:

• Familial hyperchylomicronemia syndrome (type 1 hyperlipoproteinemia) is a rare autosomal recessive disorder affecting lipoprotein metabolism.
• Characterized by severe hypertriglyceridemia (triglyceride levels >880 mg/L) due to chylomicron accumulation and defective triglyceride hydrolysis.
• Affects approximately one in a million individuals.

Purpose of the Study:

• To report a case of familial hyperchylomicronemia with late-onset sepsis in a neonate.
• To highlight the diagnostic process and genetic confirmation of the disorder.

Main Methods:

• Clinical presentation of a 24-day-old male with symptoms including excessive crying and refusal to feed.
• Observation of viscous, milky white blood during sampling, indicating severe hypertriglyceridemia.
• Genetic confirmation using whole exome sequencing.

Main Results:

• Diagnosis of familial hyperchylomicronemia with late-onset sepsis.
• High plasma triglyceride levels and a family history of early cardiac disease.
• Identification of a homozygous lipoprotein lipase gene mutation.

Conclusions:

• Familial hyperchylomicronemia can present with severe hypertriglyceridemia and may be associated with sepsis in neonates.
• Genetic testing, specifically whole exome sequencing, is crucial for confirming the diagnosis.
• Early identification and management are essential for patients with this rare genetic disorder.