familial chylomicronemia syndrome
Findings
No curated finding names familial chylomicronemia syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare autosomal recessive disease characterized by the buildup in the blood of fat particles called chylomicrons (chylomicronemia), severe hypertriglyceridemia, and the risk of recurrent and potentially fatal pancreatitis and other complications. It is caused by mutations in the gene encoding LPL or, less frequently, by mutations in genes encoding other proteins necessary for LPL function.
Definition from the Mondo Disease Ontology (MONDO:0018637), read 2026-09-29. CC BY 4.0.
Features
21 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- HyperlipidemiaHPOHP:0003077
- Obligate (100% of cases)
- HypertriglyceridemiaHPOHP:0002155
- Obligate (100% of cases)
- Increased circulating chylomicron concentrationHPOHP:0012238
- Obligate (100% of cases)
- Acute pancreatitisHPOHP:0001735
- Very frequent (80% to 99% of cases)
- Episodic abdominal painHPOHP:0002574
- Very frequent (80% to 99% of cases)
- HepatosplenomegalyHPOHP:0001433
- Very frequent (80% to 99% of cases)
- Lipemia retinalis
Show the remaining 9
- Nausea and vomitingHPOHP:0002017
- Occasional (5% to 29% of cases)
- Abnormal emotional stateHPOHP:0100851
- Very rare (1% to 4% of cases)
- DementiaHPOHP:0000726
- Very rare (1% to 4% of cases)
- DepressionHPOHP:0000716
- Very rare (1% to 4% of cases)
- Diabetes mellitusHPOHP:0000819
- Very rare (1% to 4% of cases)
- JaundiceHPOHP:0000952
- Very rare (1% to 4% of cases)
Where it sits
- A kind of