Scientists analyze multiple genetic variants of familial chilomicronemia syndrome, an ultrarare disease microbiologystudy

Familial chilomicronemia syndrome (FCS) is a genetic disease that causes persistent accumulation of triglycerides in the blood—more than 10 times higher than normal. The main symptoms are severe abdominal pain and frequent episodes of pancreatitis (severe inflammation of the pancreas). With a prevalence of 1 or 2 cases per million inhabitants, it is considered an ultrarare and underdiagnosed disease because it is unknown and difficult to diagnose.

A team led by researchers from the University of Malaga has carried out a multidisciplinary study in which multiple genetic variants that originate the lipid alteration caused by this pathology have been identified and analyzed using standard criteria for the first time. The results of this work have been recently published in Genetics in Medicine.

As pointed out by María José Ariza, researcher of the Lipids and Arteriosclerosis Laboratory of the Health and Medical Research Centre (CIMES) of the UMA, this finding is essential to clinical diagnosis and, therefore, having access to the only pharmacological treatment currently available for this disease, which only records fifty diagnosed cases in Spain, of whom 16 are located in Andalusia and 6, specifically, in Malaga.

Diagnostic accuracy

“Based on the ACMG-AMP guidelines, which are the internationally accepted standards for the assessment of genetic studies, we have managed to establish precise recommendations that enables the identification of pathogenic variants, that is, variants that cause SQF,” explains the researcher at the University of Malaga. “In other words, we have specified which assessment criteria should be applied to these variants and why, always based on scientific and clinical evidence,” she adds.

This study began in 2018 with patient recruitment: A total of 245 with blood triglyceride levels well above normal. Based on the clinical information provided by hospitals of different parts of the country that contributed cases to the study, biochemical and genetic studies were carried out at the UMA with the aim of identifying those affected by this syndrome.

Awareness

Raising awareness of this disease is another purpose of this research that, in short, seeks to improve the quality of life of patients who, apart from facing the ignorance of an ultrarare disease, have the added difficulty of being forced to reduce fat in their diet to a minimum, the origin of the accumulation of triglycerides in their blood.

Currently, for patients with SQF there is a very restrictive and effective treatment, which requires confirmation of the disease through a genetic study for medical prescription. Therefore, “this work is also a step forward to expand its use, since it helps confirm the diagnosis in more patients.”