Cardiology · Cardiology / Preventive cardiology and lipidology
Familial chylomicronemia syndrome
also: lipoprotein lipase deficiency; Type I hyperlipoproteinemia
Severe hypertriglyceridemia from impaired chylomicron clearance.
- Specialty
- Cardiology
- Subspecialty
- Cardiology / Preventive cardiology and lipidology
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes, infancy
- Gene(s) involved
- APOA5, APOC2, GPIHBP1, LMF1, LPL
- Alternative names & eponyms
- lipoprotein lipase deficiency; Type I hyperlipoproteinemia
Etiology & mechanism
Biallelic defects in the lipolytic pathway.
Gene(s) involved (5)
Symptoms & signs (6)
In plain terms, someone with Familial chylomicronemia syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
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Shares symptoms with
1 shared
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abdominal pain
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abdominal pain
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abdominal pain
1 shared
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abdominal pain
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abdominal pain
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abdominal pain
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abdominal pain
1 shared
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abdominal pain
Shares genes with
None.
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