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Familial chylomicronemia syndrome

Disease definition

A rare genetic hyperlipidemia characterized by excessive increase in plasma triglyceride levels due to the accumulation of chylomicrons. Clinical manifestations include recurrent episodes of severe acute pancreatitis, abdominal pain, nausea, fatigue, diarrhea, constipation, hepatosplenomegaly, eruptive xanthomas, and failure to thrive. Children may often be asymptomatic. The condition is not associated with severe atherosclerosis.


Classification level: Disorder
  • Synonym(s): -
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood, Adult, Infancy, Adolescent
  • ICD-10: -
  • OMIM: 118830  207750  238600  615947
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information


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