IEMbase 0381: LPL-related Lipoprotein lipase deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 381 |
| Nosology | 15.2.16.01 |
| Gene | LPL |
| External IDs | OMIM:609708; OMIM:238600; ORPHA:411 |
| Generated mapping | UNMAPPED; no candidate |
| Candidate DisMech targets | Familial_Chylomicronemia_Syndrome.yaml |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents autosomal recessive LPL-related lipoprotein lipase deficiency, with alternate names hyperlipoproteinemia type 1, familial hyperchylomicronemia, and HLP type 1.
Clinical rows include lipemia retinalis, pancreatitis, eruptive xanthomas, and abdominal pain. Biochemical rows include low post-heparin lipoprotein lipase activity, increased cholesterol, very low HDL cholesterol, and very high serum triglyceride. Treatment rows include volanesorsen, low-fat diet, and plasmapheresis.
DisMech phenotype coverage
The generated unmapped status is a false negative. Local
Familial_Chylomicronemia_Syndrome.yaml models a rare autosomal recessive
monogenic lipid disorder with extreme sustained hypertriglyceridemia caused by
absent or markedly impaired lipoprotein lipase activity. The file explicitly
includes biallelic LPL variants and the relevant phenotype cluster of recurrent
acute pancreatitis, eruptive xanthomas, hepatosplenomegaly, lipemia retinalis,
and abdominal pain.
Local DisMech is broader than IEMbase because it treats familial chylomicronemia syndrome as a multi-gene disorder that can also involve APOC2, APOA5, GPIHBP1, or LMF1, and it has stronger coverage of very-low-fat diet and apoC-III-targeting therapies.
Concordance and completeness
Judgement: false negative; resolve to Familial_Chylomicronemia_Syndrome.yaml.
The resources agree on LPL-related familial hyperchylomicronemia, autosomal recessive inheritance, severe hypertriglyceridemia, low LPL activity, pancreatitis, lipemia retinalis, eruptive xanthomas, abdominal pain, and dietary/pharmacologic triglyceride-lowering management.
Curation actions
- Map this record to
Familial_Chylomicronemia_Syndrome.yaml, with the LPL branch as the relevant subtype context. - Consider adding IEMbase's post-heparin LPL activity, HDL cholesterol, cholesterol directionality, and plasmapheresis row as future enrichment after source verification.
- Preserve the distinction between LPL-specific deficiency and broader multi-gene familial chylomicronemia syndrome when adding subtype anchors.