Category: Lipids/CV Health
Objective : FCS is a rare autosomal recessive disorder that limit the production or impair functionality of lipoprotein lipase (LPL) causing extremely high serum triglyceride (TG) levels. Estimated prevalence is about 1 in 1,000,000. This is likely due to underrecognization of the disease. FCS is likely missed in the primary care setting due to its rarity and heterogeneity of clinical presentation.
Methods : 64 years old male with history of FCS diagnosed in his 20s, and multiple episodes of pancreatitis was admitted to hospital for another episode. Admission TG level was 1184 mg/dL. It came down to 673 with only being n.p.o. 7 hours of insulin drip lowered TG level to 484. His exam was consistent with eruptive xanthomas and blood sample was in creamy appearance. Upon review of his previous TG levels since 2008, highest TG level was found to be 9160. He was not on any antihyperlipidemic drug up until a month ago when a statin was initiated. He reports using multiple agents for his hypertriglyceridemia (HTG) in the past including fenofibrate, gemfibrozil and niacin. However these agents worsened pancreatitis. He has tried plasma exchange on several occasions. Unfortunately, he was having insurance reimbursement issues to have it done on a regular basis. He reported being strictly adherent to very low-fat diet (VLFD).
Results : .
Discussion : A diagnosis of FCS can be clinically made by findings of severe, refractory HTG with TG levels >880 mg/dL for 3 consecutive blood tests, conresponsive to TG lowering therapies, despite adherence to VLFD. Genetic testing and the post-heparin LPL activity assay as diagnostic tests for FCS are limited, as the tests are only available at specialized laboratories. The mainstays of symptom management are dietary restriction of total fat intake to 10-15% of calories, abstinence from alcohol, and avoidance of medications known to increase TG levels. Lipid-lowering agents such as ﬁbrates, omega-3 fatty acids, and niacin are ineffective, because they act by reducing the hepatic output of very low-density lipoproteins or by enhancing LPL activity.
Conclusion : Many FCS patients report seeing multiple physicians before their symptoms are attributed to FCS. Arriving at a diagnosis enables the patients to seek optimal care, relieves psychological stressors resulting from uncertainty about their illness. Up to 45% of patients felt that some medical professionals did not understand their disease, made them feel guilty or responsible for their symptoms, gave advice that would have worsened symptoms. Adherence to dietary restrictions over a patient’s lifetime is difﬁcult, negatively impacts quality of life, and does not completely obviate the risk for pancreatitis in all patients.
Baystate Medical Center
Dr Canan Gunay received her medical degree from Kocaeli University Medical School, Turkey and completed her residency at St Vincent Medical Center, CT. She is currently a second year fellow at Baystate Medical Center, MA.