Familial chylomicronemia syndrome

Also known as: lipoprotein lipase deficiency; Type I hyperlipoproteinemia

Severe hypertriglyceridemia from impaired chylomicron clearance.

Medical 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

Etiology & mechanism

Biallelic defects in the lipolytic pathway.

Gene(s) involved (5)

APOA5APOC2GPIHBP1LMF1LPL

Symptoms & signs (6)

abdominal paineruptive xanthomashepatosplenomegalylipemia retinalismilky plasmarecurrent pancreatitis

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.