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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: DisorderDetailed information
Professionals
- Clinical practice guidelines
- Deutsch (2015)
- Clinical genetics review
- English (2017)
Additional information
Further information on this disease
Patient-centred resources for this disease
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Specialised Social Services
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