Seven Years 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

Keywords: Hypertriglyceridemia; Familial Chylomicronemia Syndrome; Gemfibrozil

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).

Table 1:Laboratory results of the reported patient since diagnosis
Test / age	normal range	40 days	8 weeks	10 weeks	6 months	1 year	2 years	3 years	4 years	5 years	6 years	6.5 years	7 years
Triglycerids mg/dL (mmol/L)	< 75mg/dl (0.8mmol/) [age 0-9 years]	3221 (36.4)	1009 (11.4)	716 (8.0)	747 (8.44)	965 (10.79)	360 (4.0)	567 (6.4)	406 (4.59)	312 (3.53)	327 (3.7)	304 (3.44)	293 (3.31)
Total cholesterol mg/dL (mmol/L)	< 170mg/dl (4.4mmol/L)	162 (4.2)	80 (2.0)	103 (2.67)	113 (2.9)	-	-	-	-	-	-	-	-
Lipase	13-60 U/L	-	11	272.1	33.3	66.6	56	28.3	-	41	17	26	-
Amylase	28-100 U/L	-	-	13	20	45	61	67	-	58	48	43	-

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.

ESPE Abstracts

P1-267