Abstract #1402734: Next Generation Sequencing Testing for Genetic Causes of Refractory Hypertriglyceridemia in an Outpatient Endocrine Clinic: A Case Series

Endocrinologists often diagnose and treat patients with Hypertriglyceridemia (HTG), but genetic causes like Familial Chylomicronemia Syndrome (FCS) Multifactorial (MCS) can be missed in everyday practice. These are caused by mutations the Lipoprotein Lipase (LPL) gene or genes required for LPL activity present treatment-refractory elevated fasting Triglycerides (TRGs) recurrent episodes of abdominal pain and/or acute pancreatitis (AP). By testing refractory HTG variations linked to these syndromes we aimed offer timely diagnosis create more personalized treatment plans. Here, strive raise awareness over importance preventing HTG-related complications. Using Next Generation Sequencing tested 7 presenting an outpatient endocrine clinic TRGs above 500 mg/dl HTG. None responded at least 3 lipid-lowering drug classes all reported pain, while had history 1 episode AP. Genetic variants MCS FCS were found 5 patients. Three genotypes consistent MCS, one being heterozygous a risk mutation (C.-3A >G) Apolipoprotein A-V (APOA5) gene, 2 likely pathogenic allele (c.888delA c.823C >T) same gene. Two FCS, compound APOA5 other homozygous variant (c.111delC) Interestingly, discovered affected responsible enhancing activity, none most common FCS. Regarding treatment, strict low-fat diet lowered than escalation medical therapy 4 In clinics, have complicated comorbidity profile, which may lead providers underestimate potential cause A definitive could relieve from psychological burden uncertainty. The makes plan focusing on imperative This also help avoid unnecessary polypharmacy. Moreover, need effective medications becomes clear. With new treatments under development, target. Hence, qualify participate relevant clinical trials direct towards once they become available.