Familial Chylomicronemia Syndrome
GPTKB entity
Statements (49)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
rare disease |
| gptkbp:affects |
adults
children |
| gptkbp:alsoKnownAs |
gptkb:FCS
gptkb:Type_I_hyperlipoproteinemia |
| gptkbp:causedBy |
mutations in APOA5 gene
mutations in APOC2 gene mutations in GPIHBP1 gene mutations in LMF1 gene mutations in LPL gene |
| gptkbp:characterizedBy |
hepatosplenomegaly
chylomicronemia eruptive xanthomas recurrent pancreatitis extremely high triglyceride levels lipemia retinalis |
| gptkbp:complication |
gptkb:diabetes_mellitus
acute pancreatitis fatty liver |
| gptkbp:diagnosedBy |
genetic testing
fasting lipid profile |
| gptkbp:firstDescribed |
1950s
|
| gptkbp:hasBiomarker |
chylomicrons in plasma
triglycerides > 1000 mg/dL |
| gptkbp:hasOrphanetID |
ORPHA:312
|
| https://www.w3.org/2000/01/rdf-schema#label |
Familial Chylomicronemia Syndrome
|
| gptkbp:ICD-10_code |
E78.3
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:MeSH_ID |
D006949
|
| gptkbp:notTreatedBy |
niacin
statins |
| gptkbp:OMIM |
238600
|
| gptkbp:prevalence |
1 in 1,000,000
|
| gptkbp:riskFactor |
alcohol consumption
certain medications pregnancy uncontrolled diabetes |
| gptkbp:symptom |
nausea
vomiting abdominal pain fatigue failure to thrive (in children) |
| gptkbp:treatment |
gptkb:volanesorsen
fibrate medications (limited efficacy) omega-3 fatty acids (limited efficacy) very low-fat diet |
| gptkbp:bfsParent |
gptkb:FCS_syndrome
|
| gptkbp:bfsLayer |
7
|