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Case Report May-August, 2010/Vol 30/Issue 2

Familial Chylomicronemia Syndrome Presenting With Acute 
Necrotizing Pancreatitis in a Five Month Infant

Borghei A¹, Azizi M²

¹Dr. Amirmasoud Borghei, Resident in Paediatrics, Department of Paediatrics, Imam Reza Hospital, Kermanshah 
University of Medical Sciences, Kermanshah, Iran, ²Dr. Mahba Azizi, MD, Department of Paediatrics, Imam Reza 
Hospital, Kermanshah University of Medical Sciences, Kermanshah, Iran

Address for Correspondence: Dr. Amirmasoud Borghei, E-mail:amirmasoud56@gmail.com

Abstract
Familial chylomicronemia syndrome (FCS) is a rare disease characterized by severe fasting 
hypertriglyceridemia and chylomicronemia, which is inherited in an autosomal recessive manner. It is 
arisen from apolipoprotein C-ll deficiency or Lipoprotein Lipase(LPL) Deficiency.We report a 5-month-old 
male infant FCS presenting with acute abdominal pain and post surgical diagnosis of acute necrotizing 
pancreatitis.

Key words: Pancreatitis, chylomicronemia, hyperlipidemia, lipoprotein lipase.

Introduction

Familial chylomicronemia syndrome is a genetic defect similar to familial hypercholestrolemia, 
which influences cleaning of lipoproteins containing 
apo-B. LPL deficiency or lack of LPL (or its cofactor, 
apo c-II), facilitates lypolysis and causes a striking 
rise of triglyceride level (found in serum) in the form of 
chylomicron, reducing HDL cholesterol level. Contrary 
to apo c-II deficiency or lack of apo c-II, chylomicron 
can be created in the case of LPL deficiency, leading 
to less increase in triglyceride of serum. Both defects 
are inherited in an autosomal recessive manner and 
their incidence is 1 out of 10,00,0001. The disease 
usually appears in infancy with episodes of acute 
pancreatitis. Eruptive xanthoma may occur over the 
knees, arms and buttocks, and the patients may have 
hepatosplenomegaly2. Here, we describe a 5 month-old 
male infant with FCS presenting with acute abdomen 
due to severe necrotizing pancreatitis. 

Case Report

The patient, a 5-month-old male infant, was 
admitted in Imam Reza Hospital, Kermanshah, Iran, 
for fever and restlessness. He was the first child in 
the family, and was born by a normal vaginal delivery; 

his parents were related (female cousin-male cousin). 
There was however no record of specific diseases in 
both the fanilies. There was no history of use of any 
medicine, or allergies to any medicines or materials. The 
patient reported to have fever and restlessness since 
two days before transfer to our hospital. There was only 
one record of bilious vomiting that had occurred one day 
before his transfer.

Physical examination showed the patient was 
feverish and restless. His vital signs included Blood 
Pressure: 90mmHg (systolic), Respiratory Rate: 32 
per minute, Pulse Rate: 124 per minute, Temperatrue: 
37.80C. Furthermore, his weight and length were 8 kg 
and 71 cm respectively and his head circumference 
was 46 cm. There was no apparent anomaly. Physical 
examination revealed abdominal tenderness and 
possibility of ascites.

He was restless, and there was mild tenderness 
in epigasteric region. The liver and spleen sizes were 
in normal range for age.There were no fatty deposits 
under the skin, and examination of other organs was 
unremarkable; Fundoscopy was normal.



-111-J. Nepal Paediatr. Soc. May-August, 2010/Vol 30/Issue 2

Abdominal x-ray revealed no significant finding 
except probability of a ureteral stone.Examination of 
ascites fluid showed Glucose: 253mg/%, protein=6.3 
mg/dl and culture was negative.

In the patient's initial abdominal ultra-sonogram, 
a considerable amount of ascites was reported. 
Considering the possibility of urinary stone in the right 
ureter and a suspicion of urinoma, an IVP was performed 
for the patient but it was reported as normal.The patient 
was reffered for second abdominal ultra-sonogram 
that showed free liquid containing septa in abdominal 
cavity and pelvis. Since the intestinal peristaltis had 
reduced; peritonitis was suspected so a laparotomy was 
performed.

Surgical exploration showed abundant exudative 
effusions and fibrins, along with inflammation of the 
pancreas and there was edema also. According to the 
surgical findings a diagnosis of acute pancreatitis was 
made. Allmeasures required for treating peritonitis was 
made, and after a week, he was discharged as a cured 
and normal patient.

Two weeks later, the patient was referred back, 
because he again had abdominal pain and restlessness. 
In the initial examination, the abdomen was soft but 
there was mild tenderness. The cardiovascular and 
respiratory systems were normal and he did not have 
fever. There were no specific deposits under the skin 
and other organs were normal on examination.

The blood sample, meanwhile, was completely 
milky (chylomicron). Considering the tests results 

Table 1: Showing the Laboratory Investigation Results

WBC: 19,100/mm3 Netrophils: 65% Lymphocytes: 33% Eosinophils: 2%
MCV: 74.5fL Platelets: 3,87,000/mm3 Haematocrit: 31.9%
Creatinine: 0.5mg% Urea: 20 mg% Ca: 8.1 mg% PO4: 7.0 mg%
Na: 139 meq/L K: 5 meq/L Bld Sugar: 80mg%
PT/PTTK: Normal Alk Phos: 341 IU/L ALT: 10 IU/L AST: 15 IU/L
Triglyceride: 975 mg% Cholesterol: 189 mg%
Lipase: 138 IU/L (5-60 IU/L) Amylase: 17 IU/L (5-195 IU/L)
Blood Culture: No Growth. U/A & U/C: Negative.

Table 2: Showing laboratory Results after re-admission

WBC: 11,500/mm3 Netrophils: 35% Lymphocytes: 60% Eosinophils: 5%
MCV: 75fL Platelets: 2,72,000/mm3 ESR:2 
ALT: 10 IU/L Alk Phos: 341 IU/L Ca: 8 mg% PO4: 6.9 mg%
AST: 12 IU/L CPK: 107 IU/L ABG: Normal
Lipase: 103 IU/L (5-60 IU/L) Amylase: 10 IU/L (5-195 IU/L)
Triglyceride: 2348 mg% Cholesterol: 479 mg%

and the disease symptoms, familial chylomicronemia 
syndrome (Type I hyperlipidemia) was suspected. 
After giving Fresh Frozen Plasma (FFP) to the patient 
(which was prescribed for acute stage of his disease), 
symptoms and triglyceride levels reduced.The patient, 
meanwhile, was being treated with fat-restricted diet 
along with fat-soluble vitamins. Medium-chain fats were 
recommended to be consumed.

Discussion

(FCS) is a rare disease which is inherited in an 
autosomal recessive manner. It is characterized with 
severe fasting hypertriglyceridemia and chylomicron 
plasma, which arises from apolipoprotein C-ll or LPL 
deficiency. In addition to familial hypertriglyceridemia, 
chylomicronemia also appears along with other diseases 
including diabetes mellitus, alcohol consumption, 
estrogen and glucosteroid intake and uremia. Familial 
LPL deficiency is the most prevalent cause for molecule 
defect leading to FCS, with an incidence of 1/10000001.

It may usually appear in the early infancy or 
adolescence with recurrent courses of abdominal pain 
(with or without pancreatitis); the pancreatitis itself, if 
existed, starts with acute conditions. Main morbidity of 
the disease is with recurrent episodes of pancreatitis 
and will lead in some patients to pancreas deficiency or 
pancreas necrosis3. The first manifestation of the disease 
in our patient was acute necrotizing pancreatitis which 
was confirmed by diagnostic laparatomy. According to 
our knowledge, it is the first case that presented with 
acute necrotizing pancreatitis.



-112-May-August, 2010/Vol 30/Issue 2 J. Nepal Paediatr. Soc.

Hepatosplenomegaly and slight increase in hepatic 
transaminases are other findings of the syndrome, 
which arises from fat accumulation in these organs 
–a phenomenon which was not seen in our patient. 
Eruptive xanthoma may be caused due to chylomicron 
phagocytosis by skin macrophages, presenting as 
yellow deposits over the buttocks and extensor surfaces 
of the extremities4. Lipemia retinalis is another disease 
manifestation in which retinal vessels have lipaemic look 
and fundus is seen to be light pink. The deposit may be 
seen in plasma if the level of triglyceride is more than 
4000mg/dl5. Among other manifestations; dementia, 
depression, and loss of memory can also be found. 
Although premature cardiovascular diseases have 
been identified in a number of the mentioned patients, 
it does not seem to be a background for premature 
atherosclerosis6.

Apolipoprotein C-ll deficiency is a rare genetic 
defect, which is inherited in an autosomal recessive 
manner, being rarer than LPL deficiency. Although 
the clinical findings are similar to LPL deficiency, the 
symptoms appears later than LPL deficiency. Familial 
LPL deficiency can be diagnosed by increase in 
triglyceride level and plasma chylomicron, while Very 
Low Density Lipoprotein (VLDL) level is low normal. 
However, there is an increased level of VLDL in familial 
apo-cΙΙ deficiency along with other findings which may 
be observed in LPL deficiency.Apolipoprotein C-ll level 
is usually assessed by gel electrophoresis. But it was 
not possible for our patient to evaluate LPL activity and 
to do an electrophoresis1,4,7.

The patients with LPL and apo-cΙΙ deficiency can 
be treated with a fat-restricted diet being nearly 15% of 
the total calorie intake. Although fat restriction (10-15 
grams daily) is suitable, saturated and non-saturated 
fat should be limited too, and need for calories should 
be compensated via medium-chain triglyceride. 
Furthermore, a greater degree of success was achieved 
via Omega-3 treatment also8. For the patients with 
apo-cΙΙ deficiency (not LPL deficiency) infusion of FFP 
can be used during an episode of acute pancreatitis. 
Considering this, we also tried to treat our patient 
whose disease was in the acute stage of pancreatitis. 
It led to improvement of the patient's symptoms; during 
convalescence, the patient was under treatment with 
omega-3 diet, fat restriction and fat-soluble vitamins. 

In conclusion, FCS may be present as acute 
necrotizing pancreatitis and this rare syndrome should 
be considered in approaching the patients with acute 
pancreatitis. In these cases, serum lipids should be 
completely examined too.

Acknowledgement

We would like to thank Dr. A.Seyedzadeh for 
guiding us to write this case report.

References

1. Mohandas MK, Jemila K, Ajith Krishnan AS et 
al. Familial chylomicronemia syndrome. Indian J 
Pediatrics 2005;72:181.

2. Feoli-Fonseca JC, Levy E, Godard M, Lambert 
M.Familial lipoprotein lipase deficiency in infancy: 
clinical, biochemical and molecular study. J Pediatr 
1998;133:417–423.

3. Lesser PB, Warshaw AL: Diagnosis of pancreatitis 
masked by hyperlipemia. Ann Intern Med 1975; 
82:795-798.

4. Parker F, Bagdade JD, Odland GF, et al: Evidence 
for the chylomicron origin of lipids accumulating 
in diabetic eruptive xanthomas: A correlative 
lipid biochemical, histochemical, and electron 
microscopic study. J Clin Invest 1970;49:2172-
2187. 

5. Thomas VT, Letha S. Lipemia retinalis. Indian J 
Pediatr 2001;38:925.

6. Benlian P, deGennes JL, Foubert J, et al: 
Premature atherosclerosis in patients with familial 
chylomicronemia caused by mutations in the 
lipoprotein lipase gene. N Engl J Med 1996;335:848-
854.

7. Shankar KN, Bava HS, Shetty J, Joshi MK. 
Lipoprotein lipase deficiency. J Postgrad Med 
1997;43:81–82.

8. Rouis M, Dugi KA, Previato L, et al: Therapeutic 
response to medium-chain triglycerides and 
omega-3 fatty acids in a patient with the familial 
chylomicronemia syndrome. Arterioscler Thromb 
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