Download Slides: Abstract SAT 508

ETIOLOGY OF EXTREME
HYPERTRIGLYCERIDEMIA IN CHILDREN: DATA
FROM A TERTIARY CHILDREN’S HOSPITAL
Nivedita Patni MD1, Abhimanyu Garg MD2.
1Division of Pediatric Endocrinology, 2Division of Nutrition and
Metabolic Diseases
UT Southwestern Medical Center, Dallas, TX, USA.
Nothing to disclose: NP, AG
Introduction
• Very severe or extreme hypertriglyceridemia (HTG) is
defined as TG value above 2000 mg/dL, and poses a
significant risk for acute pancreatitis.
1.
Berglund L, et al. J Clin Endocrinol Metab 2012; 97:2969-2989
Introduction
2. Brunzell JD, et al. Med Clin North Am. 1982;66(2):455-468.
Introduction
•
There is paucity of data regarding the
prevalence and etiology of extreme HTG in
children.
• Therefore, we determined demographics,
clinical features and etiologies of patients
with extreme HTG at a tertiary children’s
hospital.
Methods
• A retrospective cross sectional chart review of
electronic medical records for 15 years
• Inclusion criteria:
• All patients with laboratory analysis done at
a tertiary children’s hospital with any serum
TG value ≥ 2000 mg/dL
• Duration: January 2000 till December 2015.
Results
Results
58
60
50
40
% 30
20
17
11
10
0
Racial distribution
8
6
Results
Male
Female
n
14
22
Median Age of
presentation in years
(range)
15.5 (0.2-18)
12.8 (0.02-19.5)
Median body mass
index (kg/m2)
25
19.4
Pancreatitis (%)
3 (21%)
9 (40%)
Results
Results
• Mutations in patients with type 1 hyperlipoproteinemia:
•
•
•
Homozygous mutation in LPL (c.662T>A; p.Ile221Asn)
Compound heterozygous mutations in LPL (c.721C>T;
p.P241S; and c.IVS112insT)1
Homozygous 17499 bp del that included GPIHBP1
gene2
• 17.9 year old AA female had with clinical features of
familial partial lipodystrophy. Genotyping for candidate
genes pending.
1.
Chokshi N, et al. J Clin Lipidol 2014;8(3):287-295
2.
Rios JJ, et al. J Inherit Metab Dis. 2012;35(3):531-540
Results
• Medications:
•
•
•
•
•
All patients with acute lymphoid leukemia (ALL) had
received L-asparaginase and high dose steroid therapy
4 out of 5 patients with solid organ transplant were on
sirolimus or tacrolimus
Patient with neonatal HIV was on antiretroviral therapy
including protease inhibitor
One patient was receiving propofol for sedation while
mechanically ventilated for acute respiratory distress
syndrome of unknown etiology.
No patient was receiving estrogen or retinoid therapy.
Results
• Mortality during the study:
•
•
•
•
4 with ALL,
1 with AML,
1 with ESRD
1 post heart transplant.
• Only the patient with end stage renal disease had acute
pancreatitis at the time of death.
Conclusion
•
Extreme HTG is rare in pediatric patients.
•
Of the total of 30,626 patients who had serum TG
measured during this period of 15 years, 36 had
extreme HTG; thus estimated prevalence is ~1:1,000.
•
Uncontrolled diabetes mellitus, L-asparaginase therapy
for ALL and genetic disorders are the most common
underlying etiologies of extreme HTG in children.
•
In contrast to adults with extreme HTG, ethanol use,
estrogen therapy and obesity do not contribute to
extreme HTG in children.
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