Severe hyperchylomicronemia in two infants with novel APOC2 gene mutation
-
Engin Kose
,
Coskun Armagan
Abstract
Background
Familial apo C-II deficiency is a rare hereditary disorder frequently caused by lipoprotein lipase (LPL) and APOC2 gene mutations. To date, less than 30 patients with familial apo C-II deficiency with 24 different mutations have been identified in the literature. Here, we describe two familial chylomicronemia syndrome cases in infants with two novel mutations of the APOC2 gene.
Case presentation
Case 1, a 46-day-old female, was admitted to our hospital for evaluation due to the lipemic appearance of the blood sample. A clinical examination revealed hepatomegaly and lipemia retinalis. Triglyceride level of 6295 mg/dL was decreased with a strict low-fat diet, medium-chain triglycerides (MCT) oil-rich formula and omega-3 fatty acid supplementation. Due to low adherence to the diet, TG elevation was detected and fresh frozen plasma (10 mL/kg/day) was administered for 2 days. A novel homozygous p.Q25X (c.73C>T) mutation in the APOC2 gene was detected. Case 2, a 10-month-old female patient, referred to our center for the differential diagnosis of hyperlipidemia as her blood sample could not be assessed due to its lipemic appearance. Laboratory examinations showed a TG level of 4520 mg/dL which was reduced with a low-fat diet, MCT oil-rich formula and omega-3 fatty acid supplementation. Hepatosteatosis and splenomegaly were determined using abdominal sonography. A novel homozygous IVS2+6T>G (c.55+6T>G) mutation in the APOC2 gene was identified.
Conclusions
We describe two novel homozygous mutations (p.Q25X [c.73C>T] and IVS2+6T>G [c.55+6T>G]) in the APOC2 gene in infants with hyperchylomicronemia. To the best of our knowledge, Case 1 is the youngest patient with familial apo C-II deficiency in the literature to date.
Acknowledgments
We would like to express our gratitude to the patients’ parents for their understanding and cooperation in this study.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
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©2018 Walter de Gruyter GmbH, Berlin/Boston
Artikel in diesem Heft
- Frontmatter
- Original Articles
- Carotid intima media thickness and associations with serum osteoprotegerin and s-RANKL in children and adolescents with type 1 diabetes mellitus with increased risk for endothelial dysfunction
- Cardiometabolic risk factors in preschool children with abdominal obesity from Medellín, Colombia
- Long-term follow-up of gonadal dysfunction in morbidly obese adolescent boys after bariatric surgery
- Prevalence of overweight and obesity and anthropometric reference centiles for Albanian children and adolescents living in four Balkan nation-states
- High urate concentration is associated with elevated blood pressure in schoolchildren
- The association of hs-CRP and fibrinogen with anthropometric and lipid parameters in non-obese adolescent girls with polycystic ovary syndrome
- Leptin and adiposity as mediators on the association between early puberty and several biomarkers in European adolescents: the HELENA Study
- Adolescents with premenstrual syndrome: not only what you eat but also how you eat matters!
- Thyroid dysfunction in children with leukemia over the first year after hematopoietic stem cell transplantation
- Morning vs. bedtime levothyroxine administration: what is the ideal choice for children?
- Basal characteristics and first year responses to human growth hormone (GH) vary according to diagnostic criteria in children with non-acquired GH deficiency (naGHD): observations from a single center over a period of five decades
- The prevalence and volumetry of pituitary cysts in children with growth hormone deficiency and idiopathic short stature
- SHOX gene deletion screening by FISH in children with short stature and Madelung deformity and their characteristics
- FGFR3-related hypochondroplasia: longitudinal growth in 57 children with the p.Asn540Lys mutation
- Case Reports
- A variable course of Cushing’s disease in a 7 year old: diagnostic dilemma
- Severe hyperchylomicronemia in two infants with novel APOC2 gene mutation
Artikel in diesem Heft
- Frontmatter
- Original Articles
- Carotid intima media thickness and associations with serum osteoprotegerin and s-RANKL in children and adolescents with type 1 diabetes mellitus with increased risk for endothelial dysfunction
- Cardiometabolic risk factors in preschool children with abdominal obesity from Medellín, Colombia
- Long-term follow-up of gonadal dysfunction in morbidly obese adolescent boys after bariatric surgery
- Prevalence of overweight and obesity and anthropometric reference centiles for Albanian children and adolescents living in four Balkan nation-states
- High urate concentration is associated with elevated blood pressure in schoolchildren
- The association of hs-CRP and fibrinogen with anthropometric and lipid parameters in non-obese adolescent girls with polycystic ovary syndrome
- Leptin and adiposity as mediators on the association between early puberty and several biomarkers in European adolescents: the HELENA Study
- Adolescents with premenstrual syndrome: not only what you eat but also how you eat matters!
- Thyroid dysfunction in children with leukemia over the first year after hematopoietic stem cell transplantation
- Morning vs. bedtime levothyroxine administration: what is the ideal choice for children?
- Basal characteristics and first year responses to human growth hormone (GH) vary according to diagnostic criteria in children with non-acquired GH deficiency (naGHD): observations from a single center over a period of five decades
- The prevalence and volumetry of pituitary cysts in children with growth hormone deficiency and idiopathic short stature
- SHOX gene deletion screening by FISH in children with short stature and Madelung deformity and their characteristics
- FGFR3-related hypochondroplasia: longitudinal growth in 57 children with the p.Asn540Lys mutation
- Case Reports
- A variable course of Cushing’s disease in a 7 year old: diagnostic dilemma
- Severe hyperchylomicronemia in two infants with novel APOC2 gene mutation
