SUN-701 - Severe Hypertriglyceridemia Unmasked: Two cases of Familial Chylomicronemia Syndrome

Background:
Familial chylomicronemia syndrome (FCS) is a rare and severe genetic disorder that affects lipid metabolism leading to severe chronic symptoms and potentially fatal episodes of pancreatitis. Classical treatment was mostly limited to dietary changes which often did not reduce pancreatitis episodes. Now with novel treatment like olezarsen, the future for these patients is looking very different. We present two cases of confirmed FCS and their response to therapy.

Clinical case:
We describe a female patient diagnosed with elevated triglycerides (TG) levels since age 7 months, treated with very-low-fat diet alone until about age 14. During this time she had frequent episodes of abdominal pain that ultimately were found to be pancreatitis secondary to hypertriglyceridemia. Episodes of pancreatitis were becoming more frequent and severe, with hospitalizations to the ICU secondary to severe pancreatitis with TG levels as high as 6,146 mg/dL. By age 23, she was in constant pain and adhering to a low-fat diet was very difficult. She had been on multiple lipid lowering agents with no success. Genetic testing showed a GPIHBP1 mutation confirming FCS diagnosis. She was started on monthly olezarsen along with dietary changes and saw a 50% decrease in TG levels as well as resolution of her pancreatitis episodes.

We also present a 30-year-old female who presented with pancreatitis for the first time at age 22 during her first pregnancy and had three subsequent episodes of pancreatitis requiring hospitalization during subsequent pregnancies when she was found to have TG of 1500 mg/dL. She was treated initially with fenofibrate and low-fat diet with little effect on TG levels which ranged from 956 to 3087 mg/dL. Genetic testing showed a homozygous mutation of LPL gene. She began treatment with olezarsen monthly with excellent response in TG levels.

Conclusion:
Familial chylomicronemia syndrome presents diagnostic challenges due to overlapping characteristics with multifactorial chylomicronemia syndrome (MCS) and limited access to genetic testing. Until recently, treatment options were also very limited to dietary changes. With the advent of olezarsen, patients have experienced a significant reduction in TG levels but more importantly, a reduction in pancreatitis and related hospitalizations.

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