We report a 5-day-old neonate born out of 3rd-degree consanguinity who presented with milky blood, hepatosplenomegaly, and lipemia retinalis (fundus examination). The baby was asymptomatic, euglycemic, and did not have xanthomas. Lipid profile was altered (total cholesterol - 2340 mg/dl, triglycerides (TG) - &gt;10,000 mg/dl, high-density lipoprotein - &lt;5 mg/dl, lipoprotein (a) - &lt;10.1 mg/dl, and apolipoprotein A1 - 795 mg/dl). Lipid profile of mother, father, and elder sibling were normal. The baby was started on skimmed milk powder and medium-chain TGs powder. The baby is under follow-up and lipid profile is improving

Lakshmi, V

Sowjanya, S V N S

Thiagarajan, Karthik

English

Atharva Scientific Publications (E-Jounals)

Vol 3 | Issue 4 | Oct - Dec 2017 Indian J Case Reports 211
Case Report
Familial chylomicronemia: A rare case report
S V N S Sowjanya, V Lakshmi, Karthik Thiagarajan
From Department of Neonatology, Mehta Multispecialty Hospitals, India Pvt., Ltd., Chetpet, Chennai, Tamil Nadu, India
Correspondence to: Dr. S V N S Sowjanya, Department of Neonatology, Mehta Multispecialty Hospitals, India Pvt., Ltd., Chetpet, 
Chennai - 600 031, Tamil Nadu, India. Phone: +91-7708172887. E-mail: drsowjanya.svns@gmail.com
Received - 13 July 2017 Initial Review - 09 August 2017 Published Online - 09 September 2017
Lipid disorders can occur either due to the primary disturbance or secondary to an underlying disease. The primary dyslipidemias are associated with overproduction/
or impaired removal of the lipoprotein. The impaired removal 
of the lipoprotein can occur due to an abnormality in either the 
lipoprotein itself or in the lipoprotein receptor [1]. Monogenic 
disorders that cause these abnormalities have received much 
attention due to their role in metabolic dysfunction and 
cardiovascular disease (CVD). These disorders often present 
during adulthood, but some of them can manifest in the pediatric 
population and can have serious consequences if misdiagnosed or 
untreated [2]. Hypertriglyceridemia is defined as having plasma 
triglyceride (TG) above the 95th percentile for the age and sex [1]. 
According to the National Cholesterol Education Program, 
normal TG level is <150 mg/dl (<1.7 mmol/l) [3]. The familial 
disorders of TG -rich lipoproteins include both common and rare 
variants of the Fredrickson classification system.
Familial chylomicronemia syndrome (FCS) (Fredrickson 
Type 1) is a rare single-gene defect caused by mutations affecting 
clearance of apoB-containing lipoproteins. The lipoprotein lipase 
(LPL) gene is located on the chromosome 8 p22. The mutation in 
this gene results in either underproduction of the enzyme or makes 
it catalytically inactive [4]. More than 50 missense and nonsense 
mutations have been identified. Majority of the mutations are 
located on exons 3, 5, and 6 which are responsible for the catalytic 
coding region of the gene [5]. Deficiency or absence of LPL or 
its cofactor apolipoprotein C-II (ApoC-II), which facilitates 
lipolysis by LPL, causes severe elevation of TG rich plasma 
chylomicrons. FCS is the most common example of severe 
hypertriglyceridemia. The prevalence of FCS is approximately 1 
in 1 million for homozygotes and 1 in 500 for heterozygotes [5]. 
Manifestations include eruptive xanthomas, acute pancreatitis, 
hepatomegaly, splenomegaly, foam cell infiltration of the bone 
marrow, and lipemia retinalis. Infants may have heterogeneous 
presentation in the form of pallor, anemia, jaundice, irritability, 
abdominal distension, and diarrhea. The manifestations vary with 
age and severity of presentation [2]. We, hereby, report such a 
case of FC in a 5-day-old infant.
CASE REPORT
We report a 5-day-old neonate born out of 3rd-degree consanguinity 
who was referred to our hospital in view of milky blood which 
was drawn elsewhere to check the serum bilirubin levels after 
consent from parents. Index case was a male baby born out of 
normal vaginal delivery at 38 weeks of gestation with a birth 
weight 3 kg and second in the birth order. Elder sibling is a male 
child who is 3 years old and healthy. Pregnancy was uneventful, 
and there was no history of abortions or still births. The baby was 
roomed in on the day of delivery and was started on exclusive 
breastfeeds from day 1 of life. On the 4th day of life, the baby 
was icteric and blood was drawn which was milky, (Fig. 1) 
and hence referred for further evaluation. On examination, the 
baby was euglycemic and irritable (Fig. 2). Anthropometry at 
the admission was normal (weight - 2.9 kg, length - 48 cm, and 
head circumference - 35 cm). Vitals including non-invasive blood 
pressure were normal. The baby had hepatosplenomegaly, but he 
did not have xanthomas. There was no history of convulsions, 
jaundice, bleeding manifestations, skin rash, premature sudden 
death, or any known case of hyperlipidemia in family members.
Investigations at the admission revealed a deranged lipid profile 
(serum enzymatic method) with elevated total cholesterol, TGs, 
and low-density lipoprotein. Apolipoprotein profile tested by serum 
nephalometry showed elevated apolipoprotein A1. Serum lipase and 
ABSTRACT
We report a 5-day-old neonate born out of 3rd-degree consanguinity who presented with milky blood, hepatosplenomegaly, and 
lipemia retinalis (fundus examination). The baby was asymptomatic, euglycemic, and did not have xanthomas. Lipid profile 
was altered (total cholesterol - 2340 mg/dl, triglycerides (TG) - >10,000 mg/dl, high-density lipoprotein - <5 mg/dl, lipoprotein 
(a) - <10.1 mg/dl, and apolipoprotein A1 - 795 mg/dl). Lipid profile of mother, father, and elder sibling were normal. The baby 
was started on skimmed milk powder and medium-chain TGs powder. The baby is under follow-up and lipid profile is improving.
Key words: Chylomicronemia, Lipemia retinalis, Milky serum, Skimmed milk powder
Sowjanya et al. Familial chylomicronemia neonate
Vol 3 | Issue 4 | Oct - Dec 2017 Indian J Case Reports 212
amylase (serum enzymatic method) were normal. Liver function 
test (IFCC kinetic method) was mildly deranged, and thyroid 
profile (electrochemiluminescence immunoassay) and coagulation 
profile were normal. Creatinine, electrolytes, hemoglobin, and 
bilirubin could not be assessed due to highly lipemic sample. 
Electrocardiography and two-dimensional echocardiography (2D 
ECHO) were within normal limits. Fundus examination revealed 
lipemia retinalis. Lipid profile of the mother, father, and elder 
sibling were normal. Diagnostic evaluation along with laboratory 
investigations is given in Fig. 3. Blood investigations are summarized 
in Table 1. Diagnosis of FCS was based on the lipemic appearance 
of serum, caking of chylomicrons on serum on refrigeration, and 
serum TG in excess of 1000 mg/dl [6].
Lipid lowering agents were not started as we could not found any 
recommendation for its use below 3 months of age. Genetic diagnosis 
could not be established owing to financial constraints and social 
reasons. Metabolic workup for other inborn errors of metabolism 
was not done as baby did not have any other manifestations. The 
baby was started on skimmed milk and medium-chain triglycerides 
(MCT) powder. After 15 days of dietary modification, lipid profile 
showed an improvement. The blood also turned normal (Fig. 4). 
The baby was continued with skimmed milk powder and simyl 
MCT powder and was under follow-up. At 6 months of age, 
the baby was thriving well with no xanthomas and with normal 
development. 2D ECHO showed pericardial fat deposit and repeat 
fundus examination showed progressive lipemia retinalis. Hence, 
the baby was started on oral Fenofibrate at 160 mg/day once daily. 
Follow-up assessment has been shown in flow diagram Fig. 3. 
Blood investigations on follow-up are summarized in Table 2. The 
baby continues to be under close follow-up.
DISCUSSION
FCS is a rare autosomal recessive disorder that usually manifests 
in childhood, but 25% of cases can manifest during infancy and 
rarely in the newborn period [7]. It is caused by the deficiency 
of extra hepatic LPL or its cofactor ApoC-II. ApoC-II deficiency 
typically has a later onset of symptoms and is often milder in 
appearance, whereas patients with LPL deficiency present at an 
earlier age with more severe hypertriglyceridemia and lower 
tolerance to dietary fat. Our case was probably due to LPL 
deficiency as it manifested very early with very high TG levels. 
Figure 1: Milky plasma at 15 min and after 6 h refrigeration
Figure 2: Irritable infant
Table 1: Blood investigations at admission
Investigation Values Normal range
Lipid profile
Total cholesterol (mg/dl) 2340 <200
Triglycerides (mg/dl) >10000 <200
HDL (mg/dl) <5 >35
LDL (mg/dl >300 <100
Apolipoprotein profile
Apolipoprotein A1 (mg/dl) 795 92-151
Apolipoprotein B (mg/dl) 77.8 47-106
Apolipoprotein B/A1 ratio 0.1 0.3-0.9
Lipoprotein (a) (mg/dl) <10.1 0-30
Liver function test
SGOT (U/L) 110 25-75
SGPT (U/L) 92 Upto 50
ALP (U/L) 382 <452
Serum lipase (U/L) 100 Upto 65
Serum amylase (U/L) 86 28-100
Thyroid profile
Free T3 (pg/ml) 3.6 2.6-3.8
Free T4 (ng/dl) 1.22 0.93-1.7
TSH (μiu/ml) 4.6 0.27-4.2
HDL: High-density lipoprotein, LDL: Low-density lipoprotein, SGOT: Serum 
glutamic oxaloacetic transaminase, SGPT: Serum glutamic pyruvic transaminase, 
ALP: Alkaline phosphatase, TG: Triglycerides
Table 2: Blood investigations at follow-up
Investigation After 15 days At 6 months
Lipid profile
Total cholesterol (mg/dl) 1118 220
Triglycerides (mg/dl) 7000 400
HDL (mg/dl) 20 45
LDL (mg/dl) 220 250
HDL: High-density lipoprotein, LDL: Low-density lipoprotein, TG: Triglycerides
Sowjanya et al. Familial chylomicronemia neonate
Vol 3 | Issue 4 | Oct - Dec 2017 Indian J Case Reports 213
Genetic diagnosis is available only at few centers. Patients with 
TG levels above 2000 mg/dl are more likely to present with 
xanthomas, and those with levels above 4000 mg/dl may present 
with lipemia retinalis (pale pink color to the retinal arterioles and 
venules due to light scattering of the large chylomicrons) [8].
Xanthomas are asymptomatic, evanescent, yellowish papules 
over buttocks, shoulders, and extensors of limbs. Phagocytosis 
of chylomicrons by macrophages in the skin results in the 
formation of eruptive xanthomas. Skin xanthomas usually regress 
within a few weeks to months after the lowering of plasma TG. 
Surprisingly, our case did not have xanthomas despite very high 
TG levels. Hepatosplenomegaly in our patient is due to ingestion 
of chylomicrons by reticuloendothelial cells. The mainstay of 
management is strict adherence to fat restriction which should be 
continued throughout life. Recommended fat restriction vary from 
<50 g/day or under 25% of total daily caloric intake to <20 g/day 
or under 15% of total daily caloric intake [9]. Intake of saturated 
fats and trans fats should be reduced and should be replaced by 
polyunsaturated and monounsaturated fats [2].
MCT are preferred source of dietary fat. MCTs’ can be either 
added to infant formula or given as an oral solution to supplement 
fat calories. Dietary MCTs’ are directly absorbed into the portal 
vein and do not require transport on chylomicrons. Therefore, 
no increase in TG concentrations is seen. The ultimate aim is to 
maintain TG values <2000 mg/dL so as to decrease the risk of 
pancreatitis. FCS resulting from deficiency in LPL or ApoC-II 
is very difficult to treat with existing pharmacologic agents. The 
pharmacological agent of choice for severe hypertriglyceridemia 
is fabric acid derivatives (Fenofibrate). Safety and effectiveness 
of Fenofibrate has not been established in pediatric patients as 
per the Food and Drug Administration, especially below 10 years. 
As monotherapy, fibrates offer the most TG reduction (20-50%), 
followed by immediate-release niacin, omega-3 methyl esters, 
extended-release niacin, statins, and ezetimibe [10].
There is a case report in which use of MCT oil and omega-3 
fatty acid resulted in complete resolution of clinical symptoms [11]. 
Hence, we also used dietary fat restriction with use of skimmed 
milk powder and MCT powder, and this approach resulted in 
improvement of lipid profile. Early diagnosis is important to 
prevent complications such as acute and chronic pancreatitis and 
pancreatic necrosis; although, pancreatic function often deteriorates 
very slowly. Pharmacologic management is sometimes needed in 
Table 3: Previous case reports
Author, year, country Age Sex Clinical 
features
Consanguinity Family 
history
Genetic 
diagnosis
Treatment
Zhang et al. [13], 2016 China A-30 days 
B-48 days
A-male 
B-male
A-sampling, 
xanthoma 
B-sampling
A-none 
B-none
A-None 
B-none
A-heterozygote 
mutation LPL 
gene B-missense 
mutation and 
deletion LPL 
gene
Both babies dietary 
modification
Adenwalla et al. [14], 2008, India 15 months Male Cleft palate 
repair-incision 
site milky 
blood
None None Not done Dietary 
modification
Saumyen et al. [15], 2015, India 2.5 months Male Tarry stools, 
abd distension, 
xanthomas, 
pallor, HSM
3rd degree Father elevated 
TG
Not done Dietary 
modification
Manzoor et al. [16], 2015, India 10 days Female Refusal to feed, 
irritability
3rd degree Parents 
hyperlipidemia
Not done Dietary 
modification
Nampoothiri et al. [17], 2011, India 38 days Male Sampling, 
hepatomegaly, 
lipemia retinalis
None None 2 novel mutations 
in LPL gene
Dietary 
modification
Azkawi and Alalwan [18], 2010, 
Saudi Arabia
Siblings 
A-2 days 
B-16 days
A-male 
B-male
A-anemia 
B-screening
1st degree Hyperlipidemia Not done A-gemfibrozil 
dietary 
modification 
B-dietary 
modification
Chen et al. [19], 2012, China A-30 days 
B-40 days
A-male 
B-male
A-loose stools, 
pallor B-pallor, 
bloody stools
None None Not done Dietary 
modification
Chaurasiya et al. [12], 2013, India 2 months Male Excessive cry, 
abd distension
None None Not done Fenofibrate dietary 
modification
Pugni et al. [20], 2014, Italy 23 days Male Sampling None None Homozygous 
mutation LPL 
gene
Exchange 
transfusion dietary 
modification
LPL: Lipoprotein lipase, HSM: Hepatosplenomagaly, TG: Triglycerides
Sowjanya et al. Familial chylomicronemia neonate
Vol 3 | Issue 4 | Oct - Dec 2017 Indian J Case Reports 214
primary triglyceridemia to prevent pancreatitis and/or reduce the 
risk of CVD. Recommendation for their use in children for this 
particular group of disease needs further studies [12]. Previous 
case reports have been summarized in Table 3.
CONCLUSION
Literature and case reports on FCS in the neonatal age group are 
scanty, and there are no specific treatment guidelines in this age 
group. Hence, it prompted us to report this case. The syndrome 
presentation is heterogeneous in a very young age group. Early 
diagnosis and dietary modification can improve the prognosis 
and maintain a near normal lifestyle for affected children as the 
risk of pancreatitis and frequency of hospital admissions are 
significantly reduced.Figure 4: Blood after treatment
Figure 3: Flow diagram (care guidelines)
Sowjanya et al. Familial chylomicronemia neonate
Vol 3 | Issue 4 | Oct - Dec 2017 Indian J Case Reports 215
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Funding: None; Conflict of Interest: None Stated.
How to cite this article: Sowjanya SVNS, Lakshmi V, Thiagarajan K. A rare 
case of familial chylomicronemia in a 5-day-old neonate. Indian J Case 
Reports. 2017;3(4):211-215.


Familial chylomicronemia: A rare case report

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