Familial chylomicronemia syndrome, combined lipase deficiency

Abstract

Introduction: Familial chylomicronemia syndrome is considered a rare autosomal recessive disorder that can clinically manifest from childhood but may occur at any age. Clinically, it presents with abdominal pain, recurrent acute pancreatitis, cutaneous xanthomas, and hepatosplenomegaly. Confirmation through NGS (Next-Generation Sequencing) is necessary to ensure that the identified variant is always biallelic. The parents, by definition, are heterozygous for the same variant and do not have the disease; they only carry the mutation without experiencing symptoms.

Objective: To investigate the presence of chylomicronemia and determine its inheritance pattern, whether it is a familial form with a biallelic monogenic pattern or a condition of multifactorial nature.

Case presentation: We present the case of a patient with multiple comorbidities who presents with abdominal pain and unexplained hypertriglyceridemia. Genetic studies are ordered to identify the etiology and establish appropriate treatment.

Discussion and conclusion: Genetic studies and molecular analysis are performed through next-generation sequencing, identifying homozygosity in the LMF1 gene, a variant known to be pathogenic. To diagnose chylomicronemia syndrome, nonpathogenic biallelic variants in the LPL complex and related proteins must be identified. Treatment involves dietary fat restriction to reduce morbidity and mortality, as well as genetic follow-up for studying at-risk family members.