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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.

ORPHA:444490

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood, Adult, Infancy, Adolescent
  • ICD-10: E78.3
  • OMIM: 118830  207750  238600  615947
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.