Manal Mustafa
Al Jalila Children’s Hospital, UAEPresentation Title:
Six-year follow-up of a child with familial chylomicronemia syndrome: disease course and effective ness of gemfibrozil treatment case report and literature review
Abstract
Background: Familial chylomicronemia syndrome (FCS) is a rare autosomal
recessive disease affecting lipoprotein metabolism. The condition is
characterized by hypertriglyceridemia, which may predispose patients to acute
pancreatitis. FCS is estimated to occur in 1 in 1 - 2 million individuals [1]
and can be diagnosed at any age, affecting all genders, races, and ethnicities
equally [2].
Case
Presentation: Here, we presented the case of a now
seven years old girl with FCS on Gemfibrozil and dietary restrictions. The
patient initially presented at 40 days of age with bloody diarrhea. Serum
samples showed lipemia with markedly elevated triglyceride levels. She was
diagnosed with FCS, confirmed by genetic testing, revealing a homozygous
variant c.833C>T(p,Ser278Phe) for the LPL gene. Despite starting a low-fat
diet with medium chain triglycerides (MCT) based milk formulas, the patient
developed acute pancreatitis two months later, with continued elevated
triglyceride levels. She was started on Gemfibrozil and fat-soluble vitamins at
two months of age, with marked improvements noted during six years of treatment
and follow-up (Table 1). Currently, she is well, with normal growth parameters
and no other episodes of acute pancreatitis. Her triglyceride levels have
maintained within normal levels (Table 1) (Fig.1).
Conclusion:Familial chylomicronemia syndrome is a rare, inherited lipid
disorder that often goes underdiagnosed and unmanaged. It is mainly present in
childhood but can be seen in infancy, with different manifestations. There are
insufficient data regarding its treatment protocol. The mainstay of treatment
is a dietary restriction, although some patients may require lipid-lowering
agents. It is worth considering the Fibrate derivative (Gemfibrozil) to be one
of the lines of management early after diagnosis.
Keywords: Hypertriglyceridemia; Familial Chylomicronemia Syndrome;
Gemfibrozil
Biography
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