Primary hypertriglyceridaemia

Synonyms: -

Material:

EDTA blood
(1 ml)

TAT:

3-6 weeks

Method:

NGS, CNV, S-SEQ, MLPA

Overview

Primary hypertriglyceridaemia refers to persistently elevated plasma triglyceride concentrations of genetic origin, ranging from rare monogenic familial chylomicronaemia syndrome to common polygenic and multifactorial forms. Hypertriglyceridaemia can arise from acquired and genetic causes; this page focuses on the primary (genetic) forms.

Primary hypertriglyceridaemia

5 Gene(s)*

APOA5

APOC2

GPIHBP1

LMF1

LPL

Clinical description

Frequency

Inheritance

Causes

Role of genetic testing

References

Created by

Our editorial team consists of medical specialists and scientists in the field of human genetics. All content is created and reviewed in accordance with current scientific standards.

Last Update : 24.09.2026

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