Genetic, or primary, hypertriglyceridemia is a lipid metabolism disorder characterised by excessively high levels of triglycerides in the blood due to mutations that affect lipoprotein production or removal. The best-known form is familial hypertriglyceridemia, an often autosomal dominant condition in which the liver produces an excessive amount of VLDL or reduces its clearance. However, there are more severe variants, such as familial chylomicronidaemia syndrome, caused by rare enzyme deficiencies, such as lipoprotein lipase (LPL), that prevent the proper breakdown of dietary fats. Clinically, this condition manifests itself with an increased risk of acute pancreatitis when triglyceride levels exceed the critical threshold of 500-1000 mg/dL, as well as promoting the early development of atherosclerosis and cardiovascular disease. In some patients, characteristic physical signs may be observed such as eruptive xanthomas, small accumulations of fat on the skin, or lipaemia retinalis, a milky appearance of the retinal vessels. Diagnosis is usually based on the lipid profile and family history, while management requires a multidisciplinary approach combining drastic dietary fat restriction with targeted drug therapies. Unlike secondary forms related to diet or diabetes, the genetic component makes control of values particularly complex and requires constant monitoring to prevent organ complications.

20 genes

Not known

Multi-gene panel aimed at the molecular diagnosis of hypertriglyceridemias

Method: NGS sequencing, determination of SNVs (Single Nucleotide Variants), small insertions and deletions and CNVs (Copy Number Variants).

Limits: The test is unable to determine the presence of underrepresented somatic events, balanced chromosomal rearrangements, nucleotide expansion events of repeat regions, CNVs <3 contiguous exons. <3 esoni contigui.

Some genes may have low coverage areas, where necessary or upon specific request, within the limits of methodological limitations, sequencing can be completed with alternative methods (Sanger).

Some genes may be duplicated in the genome (pseudogenes), which may invalidate the analysis. 

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