familial lipoprotein lipase deficiency
Findings
No curated finding names familial lipoprotein lipase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Familial lipoprotein lipase deficiency is a rare genetic disorder is which a person lacks the enzyme lipoprotein lipase, a protein needed to break down fat molecules. Deficiency of this enzyme prevents affected individuals from properly digesting certain fats. This results in the accumulation of fatty droplets called chylomicrons in the blood and an increase in the blood concentration of triglycerides. Symptoms include episodes of abdominal pain, recurrent inflammation of the pancreas (pancreatitis), abnormal enlargement of the liver and/or spleen (hepatosplenomegaly), and the development of skin lesions known as erruptive xanthomas. Familial lipoprotein lipase deficiency is caused by changes (mutations) in the LPL gene. It is inherited in an autosomal recessive pattern. Treatment aims to control symptoms and blood triglyceride levels with a very low-fat diet. Treatment for individual symptoms (i.e. pancreatitis) involves following established treatment guidelines.
Definition from the Mondo Disease Ontology (MONDO:0009387), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Young adult onset
HPO, annotations 2026-09-02
Features
5 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.
- Acute pancreatitisHPOHP:0001735
- 1 of 1 reported patient
- Eruptive xanthomasHPOHP:0001013
- 1 of 1 reported patient
- HypercholesterolemiaHPOHP:0003124
- 1 of 1 reported patient
- Lactescent serumHPOHP:0031028
- 1 of 1 reported patient
- Precocious atherosclerosisHPOHP:0004416
- 0 of 1 reported patient
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- LPLHGNC:6677
- Definitive · Ambry Genetics · Autosomal recessive · 2023
- Definitive · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Definitive · G2P · Autosomal recessive · 2024
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
Where it sits
Other names
5 names
Resolves to: familial lipoprotein lipase deficiency
- Also called
- familial lipoprotein lipase deficiency (disorder) [ambiguous]familial lipoprotein lipase deficiency with type I phenotypehigh density lipoprotein cholesterol level QTL 11hyperchylomicronemiaLPL deficiency