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Ann Pediatr Endocrinol Metab > Volume 29(2); 2024 > Article
DOI: https://doi.org/10.6065/apem.2346208.104    Published online January 15, 2024.
Six-year follow-up of a child with familial chylomicronemia syndrome: disease course and effectiveness of gemfibrozil treatment --case report and literature review
Manal Mustafa  , Mira Almheiri 
Al Jalila Children’s Hospital, Dubai, UAE
Address for correspondence:  Manal Mustafa
Email: flowers.garden2222@gmail.com
Received: October 6, 2023   Revised: November 16, 2023   Accepted: December 12, 2023
Abstract
Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disease affecting lipoprotein metabolism. FCS is estimated to occur in 1 in 1–2 million individuals and can be diagnosed at any age, equally affecting all genders, races, and ethnicities. The condition is characterized by hypertriglyceridemia, which may predispose patients to acute pancreatitis. In this report, we present the case of a now 6-year-old girl with FCS on gemfibrozil and dietary restrictions. The patient initially presented at 40 days of age with bloody diarrhea. Serum samples revealed lipemia, with markedly elevated triglyceride levels. The patient was diagnosed with FCS, confirmed by genetic testing showing the homozygous variant c.833C>T(p,Ser278Phe) for the LPL gene. Despite being on a low-fat diet with medium chain triglyceride (MCT) based milk formulas, the patient developed acute pancreatitis 2 months later with continued elevated triglyceride levels. She was placed on gemfibrozil and fat-soluble vitamins at 2 months of age, with marked improvements subsequently noted. Currently, the patient is doing well, with normal growth parameters and no other episodes of acute pancreatitis. Her triglyceride levels have been maintained within normal levels. FCS is a rare, inherited lipid disorder that often goes underdiagnosed and unmanaged. It is worth considering the fibric acid derivative (gemfibrozil) to be one of the lines of management early on after diagnosis.
Keywords: Hypertriglyceridemia, Familial chylomicronemia syndrome, Gemfibrozil


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