Hypertriglyceridemia thalassemia syndrome
-
Mili Jain
,
Wahid Ali
Abstract
Background
Hypertriglyceridemia thalassemia syndrome is a rare entity with an unknown pathogenetic link.
Case presentation
We report a case of an 8-month-old female with thalassemia major and increased triglyceride (TG) levels. The clinical features were as in classical thalassemia except for a white discoloration of the plasma. After exclusion of familial triglyceridemia and secondary causes (hypothyroidism, nephrotic syndrome, drugs etc.), a diagnosis of hypertriglyceridemia thalassemia syndrome was made.
Conclusions
The high levels of TG in these patients are associated with oxidative stress and higher risk of acute pancreatitis and coronary diseases. An early recognition is thus essential. In our patient, the levels reduced after a transfusion therapy similar to previous reports.
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.
References
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©2018 Walter de Gruyter GmbH, Berlin/Boston
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Articles in the same Issue
- Frontmatter
- Review
- Prevalence of cranial MRI findings in girls with central precocious puberty: a systematic review and meta-analysis
- Original Articles
- Can having a sibling with type 1 diabetes cause disordered eating behaviors?
- Wrist circumference as a novel predictor of obesity in children and adolescents: the CASPIAN-IV study
- Evaluation of Mn-superoxide dismutase and catalase gene expression in childhood obesity: its association with insulin resistance
- Impact of a group-based treatment program on adipocytokines, oxidative status, inflammatory cytokines and arterial stiffness in obese children and adolescents
- Clinical management of childhood hyperthyroidism with and without Down syndrome: a longitudinal study at a single center
- Detection of distant metastasis at the time of ablation in children with differentiated thyroid cancer: the value of pre-ablation stimulated thyroglobulin
- Random serum free cortisol and total cortisol measurements in pediatric septic shock
- Self-assessment of pubertal development in a puberty cohort
- Growth, the Mediterranean diet and the buying power of adolescents in Greece
- Clinical and molecular genetic characterization of two patients with mutations in the phosphoglucomutase 1 (PGM1) gene
- Genetic analysis of three families with X-linked dominant hypophosphatemic rickets
- Clinical heterogeneity and molecular profile of triple A syndrome: a study of seven cases
- No central adrenal insufficiency found in patients with Prader-Willi syndrome with an overnight metyrapone test
- Case Reports
- A novel mutation in the proopiomelanocortin (POMC) gene of a Hispanic child: metformin treatment shows a beneficial impact on the body mass index
- Hypertriglyceridemia thalassemia syndrome
- Severe consumptive hypothyroidism caused by multiple infantile hepatic haemangiomas
