Familial chylomicronemia syndrome

Orpha code: 444490OMIM code: 615947

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.

Disease data
Classification

Disease

ORPHA code
444490
OMIM code
615947
ICD10 code
-
ICD11 code
-

No additional description.

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