Usefulness of the ApoB Quick Diagnosis App in the Diagnosis of Suspected Familial Chylomicronemia Syndrome

Familial chylomicronemia syndrome (FCS) is a rare, autosomal, recessive disease caused by mutations in the lipolytic cascade, that produce profound elevation in triglycerides due to accumulation of intact chylomicrons (CM) particles. Mutations in the lipoprotein lipase gene (LPL) account for 80% of these cases. FCS patients can present with a variety of symptoms, including eruptive xanthomas and pancreatitis, but not CAD. These patients often do not respond to traditional lipid lowering agents. Accordingly, an accurate diagnosis is essential in order to institute the correct treatment.
Source: Journal of Clinical Lipidology - Category: Lipidology Authors: Tags: Genetic Disorders Source Type: research